Term
| What are teh findings of pregnancy quad screen for patients with trisomy 18? |
|
Definition
| decreased AFP, decreased beta HCG, decreased estriol, normal inhibin A |
|
|
Term
| What are the findings in Patau's syndrome? |
|
Definition
| severe mental retardation, rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease |
|
|
Term
| What are the results of the pregnancy quad screen for Patau's syndrome? |
|
Definition
| normal alpha fetoprotein, normal beta hCG, normal estriol, normal inhibin A |
|
|
Term
| Which chromosomes are commonly involved in Robertsonian translocations? |
|
Definition
|
|
Term
| What is the mutation in cri-du-chat? |
|
Definition
| microdeletion of the short arm of chromosome 5 |
|
|
Term
| What are the findings in Cri-du-chat? |
|
Definition
| microcephaly, moderate to severe mental retardation, high pitched crying/mewing, epicanthal folds, cardiac abnormalities (VSD) |
|
|
Term
| What is the mutation associated with williams syndrome? |
|
Definition
| congenital microdeletion of long arm of chromosome 7 (deleted region involves the elastin gene) |
|
|
Term
| What are the findings of williams syndrome? |
|
Definition
| distinctive "elfin" facies, mental retardation, hypercalcemia (increased sensitivity to vitamin D), well developed verbal skills, extreme friendliness with strangers, cardiovascular problems |
|
|
Term
| Name some 22q11 deletion syndromes? |
|
Definition
| diGeorge Syndrome; velocardiofacial syndrome |
|
|
Term
| What are the findings associated with velocardiofacial syndrome? |
|
Definition
| palate, facial and cardiac defects |
|
|
Term
| What are teh features of 22q11 deletion syndromes? |
|
Definition
| cleft palate, abnormal facies, thymic aplasia, cardiac deficiency, hypocalcemia secondary to parathyroid aplasia |
|
|
Term
| Where along the gut are fat soluble vitamins absorbed? |
|
Definition
|
|
Term
| Excessive mineral oil intake can lead to... |
|
Definition
| fat soluble vitamin deficiencies |
|
|
Term
| Which water soluble vitamins are stored in teh liver? |
|
Definition
|
|
Term
| B complex deficiencies often result in what symptoms? |
|
Definition
| dermatitis, glossitis, and diarrhea |
|
|
Term
| What vitamin becomes CoA? |
|
Definition
|
|
Term
| What are the functions of vitamin A in the body? |
|
Definition
| antioxidant, constituent of visual pigments (retinal); essential for normal differentiation of epithelial cells into specialized tissues (pancreatic cells, mucus secreting cells), prevents squamous metaplasia |
|
|
Term
| What is retinol used to treat? |
|
Definition
| measles and AML, subtype M3; topically for wrinkles and acne |
|
|
Term
| What are teh symptoms of vitamin A def? |
|
Definition
| night blindness, and dry skin |
|
|
Term
| What are the symptoms of vitamin A excess? |
|
Definition
| arthralgias, fatigue, headaches, skin changes, sore throat, alopecia |
|
|
Term
| What are the teratogenic effects of excess vitamin A? |
|
Definition
| cleft palate, cardiac abnormalities |
|
|
Term
| What is teh biologically active form of vitamin B1? |
|
Definition
| thiamine pyrophosphate (TPP) |
|
|
Term
| What is the function of vitamin B 1? |
|
Definition
| turns into TPP which is a cofactor for several enzymes in decarboxylation reactions: pyruvate dehydrogenase, alpha ketoglutarate dehydrogenase, transketolase, branched chain amino acid dehydrogenase |
|
|
Term
| What are teh symptoms of wernicke-korsakoff? |
|
Definition
| confusion, ataxia, and opthalmoplegia are the classic triad; also, confabulation, personality change, memory loss (permanent) |
|
|
Term
| What causes wenicke korsakoff? |
|
Definition
| def in B1 which results in damage to the medial dorsal nu of the thalamus and mamillary bodies |
|
|
Term
| What is the permanent symptom of wernicke korsakoff? |
|
Definition
|
|
Term
| What are teh symptoms of dry beriberi? |
|
Definition
| polyneuritis, symmetrical muscle wasting |
|
|
Term
| What are the symptoms of wet beri beri? |
|
Definition
| high output cardiac failure (dilated cardiomyopathy) and edema |
|
|
Term
| A deficiency in thiamine causes symptoms by what mechanism? |
|
Definition
| impaired glucose breakdown --> ATP depletion; highly aerobic tissues are affected first (brain and heart) are affected first |
|
|
Term
| Why does alcoholism cause B1 deficiency/ |
|
Definition
| both malnutrition and malabsorption contribute |
|
|
Term
| What is the funciton of riboflavin? |
|
Definition
| cofactor in oxidation and reduction (FADH2) |
|
|
Term
| What nutrient is FMN derived from? |
|
Definition
|
|
Term
| What are the symptoms of riboflavin deficiency? |
|
Definition
| cheilosis and corneal neovascularization |
|
|
Term
| What amino acid can be used to make a vitamin? |
|
Definition
| niacin can be derived from tryptophan; synthesis requires B6 |
|
|
Term
| What can cause niacin deficiency? |
|
Definition
| hartnup disase (d/t decreased tryptophan absorption), malignant carcinoid syndrome (increased tryptophan metabolism), and INH (decreased vitamin B6) |
|
|
Term
| What are the symptoms of B3 deficiency? |
|
Definition
| glossitis; severe defiency= pelagra (diarrhea, dermatitis, dementia) |
|
|
Term
| What is the function of B5? |
|
Definition
| essential component of CoA (a cofactor for acyl transfers) and fatty acid synthase |
|
|
Term
| A deficiency in pantothenate can result in what symptoms? |
|
Definition
| dermatitis, enteritis, alopecia, and adrenal insufficiency |
|
|
Term
| What kinds of reactions need vitamin B6? |
|
Definition
| transamination (ALT, AST), decarboxylation, and glycogen phosphorylase |
|
|
Term
| Pyridoxine is necessary in the synthesis of what molecules? |
|
Definition
| cystathionine, heme, niacin, and GABA |
|
|
Term
| Deficiency in vitamin B6 can lead to what symptoms? |
|
Definition
| convulsions, hyperirrtability, peripheral neruopathy, sideroblastic anemia (due to impaired Hb syntehsis and Fe excess) |
|
|
Term
| What medications can induce a B6 deficiency? |
|
Definition
| niacin and birth control pills |
|
|
Term
| What is the function of cobalamin? |
|
Definition
| cofactor for homocysteine methyltransferase (transferse CH3 group as methylcobalamin to form methionine from homocysteine) and methylmalonyl-CoA mutase (turns methylmalonyl-CoA into succinyl-CoA) |
|
|
Term
| Where does cobalamin come from? |
|
Definition
| syntehsized by microorganisms (found in animal products) |
|
|
Term
| Diphyllobothrium latum causes a deficiency in what? |
|
Definition
|
|
Term
| What are teh neurologic symptoms of B12 deficiency? |
|
Definition
| paresthesias, subacute combined degeneration |
|
|
Term
| What vitamin is necessary for the breakdown of homocysteine? |
|
Definition
| you need B12 (with THF) to turn it into methionine; or B6 to turn it into cysteine |
|
|
Term
| Succinyl-CoA with the help of B6 can form... |
|
Definition
|
|
Term
| What is the most common vitamin deficiency in the US? |
|
Definition
|
|
Term
| What states predispose to folate deficiency? |
|
Definition
|
|
Term
| SAM is needed for the synthesis of.. |
|
Definition
| EPI from NE, phosphocreatine, and methionine from homocysteine |
|
|
Term
| Regeneratio of methionine (and thus SAM) is dependent on what vitamins? |
|
Definition
|
|
Term
| What chemical reactions is biotin esseential for? |
|
Definition
| pyruvate carboxylase (pyruvate to oxaloacetate), acetyl CoA carboxylase (acetyl CoA to malonyl CoA), propionyl CoA carboxylase (propionyl Co A to methylmalonyl CoA) |
|
|
Term
| What can cause biotin deficiency? |
|
Definition
| antibiotic use or excessive ingestion of raw eggs (avidin in egg whites binds biotin) |
|
|
Term
| What are the symptoms of biotin deficiency? |
|
Definition
| dermatitis, alopecia, enteritis |
|
|
Term
| What are the functions of vitamin C in the body? |
|
Definition
| facilitates iron absorption by keep iron in Fe2+ reduced state, necessary for hydroxylation of proline and lysine in collagen synthesis, necessary for dopamine beta hydroxylase, which converts dopamine to NE |
|
|
Term
| What are the symptoms of vitamin C excess? |
|
Definition
| N/V/D, fatigue, sleep problems , increased risk of iron toxicity in predisposed invdividuals |
|
|
Term
| What are thedifferent types of vitamin D that can be ingested? |
|
Definition
| D2= ergocalciferol (ingested from plants), D3= cholecalciferol (consumed in milk, formed in sun-exposed skin) |
|
|
Term
| What is the storage form of vitamin D? |
|
Definition
|
|
Term
| What does vitamin D deficiency cause? |
|
Definition
| rickets in children; osteomalacia in adults, hypocalcemic tetany |
|
|
Term
| In what patients might you see vitamin D excess? deficiency? |
|
Definition
| excess= sarcoidosis (increased activation of vitamin D by epithelioid macrophages); def= dark skinned, breast feeding infants |
|
|
Term
| What is the function of vitamin E? |
|
Definition
| antioxidant (protects erythrocytes and membranes from free-radical damage) |
|
|
Term
| What are teh symptoms of vitamin E deficiency? |
|
Definition
| increased fragility of erythrocytes (hemolytic anemia); muscle weakness, posterior column and spinocerebeallar tract demyelination |
|
|
Term
| T/F Vitamin K is in breast milk. |
|
Definition
|
|
Term
| What is the function of zinc in the body? |
|
Definition
| essential for enzymes like carbonic anhydrase, lactate dehydrogenase, and in the formation of zinc fingers (transcription factor motif) |
|
|
Term
| What are the symptoms of zinc deficiency? |
|
Definition
| acrodermatitis enteropathica (rahs around eyes, mouth, nose and anus), delayed wound healing, hypogonadism, decreased adult hair (axillary facial, pubic), dysgeusia, anosmia, may predispose to alcoholic cirrhosis, impaired night vision, infertility, decreased mental function |
|
|
Term
| What nutrient deficiency may predispose to alcoholic cirrhosis? |
|
Definition
|
|
Term
| What vitamin deficiency may predispose to impaired night vision? |
|
Definition
|
|
Term
| What drug inhibits alcohol dehydrogenase? |
|
Definition
|
|
Term
| What is fomepizole used for? |
|
Definition
| antidote for methanol or ethylene glycol poisoning |
|
|
Term
|
Definition
| inhibits acetaldehyde dehydrogenase (acetaldehyde accumulates contributing to hangover symptoms) |
|
|
Term
|
Definition
| metabolized to formadehyde which can cause retinal damage and death |
|
|
Term
| What enzyme is deficient in some asian people and leads to a flushing of the skin after consuming alcohol? |
|
Definition
| acetaldehyde dehydrogenase |
|
|
Term
| What is teh limiting factor for ethanol metabolism? |
|
Definition
|
|
Term
| Why does excess ethanol ingestion lead to lactic acidosis? |
|
Definition
| excess NADH needs to be regenerated into NAD+ by conversion of pyruvate to lactate |
|
|
Term
| Why does excess ethanol ingestion lead to hypoglycemia? |
|
Definition
| increased production of NADH needs to be regenerated by conversion to NAD+ which is done by oxaloacetate to malate; excess NADH also stimulates fatty acid synthesis |
|
|
Term
| Where does acetyl CoA production take place? |
|
Definition
|
|
Term
| What biochemical pathways take place partially in teh cytoplasm and partly in the mitochondria? |
|
Definition
| heme synthesis, urea cycle, gluconeogenesis |
|
|
Term
| What's the difference between a kinase and a phosphorylase? |
|
Definition
| kinase uses ATP; phosphorylase adds inorganic phosphate onto substrate without using ATP |
|
|
Term
| What does a dehydrogenase do? |
|
Definition
|
|
Term
| What is the rate limiting enzyme of glycolysis? |
|
Definition
|
|
Term
| What is the rate limiting enzyme of gluconeogenesis? |
|
Definition
| fructose-1,6-bisphosphatase |
|
|
Term
| What is the rate limiting step of the TCA cycle? |
|
Definition
|
|
Term
| What is the rate limiting step of glycogen synthesis? |
|
Definition
|
|
Term
| What is the rate limiting step of glycogenolysis? |
|
Definition
|
|
Term
| What is the rate limiting step of the HMP shunt? |
|
Definition
| glucose-6-phosphate dehydrogenase |
|
|
Term
| What is teh rate limiting step of de novo pyrimidine syntehsis? |
|
Definition
| carbamoyl phosphate synthetase I |
|
|
Term
| What is the rate limiting step of de novo purine syntehsis? |
|
Definition
| glutamine-PRPP aminotransferase |
|
|
Term
| What is the rate limiting step of the urea cycle? |
|
Definition
| carbamoyl pohsphate syntehtase I |
|
|
Term
| What is the rate limiting step of fatty acid synthesis? |
|
Definition
|
|
Term
| What is the rate limiting step of fatty acid oxidation? |
|
Definition
| carnitine acyltransferase I |
|
|
Term
| What is the rate limiting step of ketogenesis? |
|
Definition
|
|
Term
| What is the rate limiting step of cholesterol syntehsis? |
|
Definition
|
|
Term
| How much ATP does aerobic metabolism of glucose produce? |
|
Definition
| 32 via malate aspartate shuttle (in heart and liver); 30 via glycerol-3-phosphate shuttle (in muscle) |
|
|
Term
| Name some carrier molecules of acyl. |
|
Definition
|
|
Term
| Name an activated carrier of aldehydes? |
|
Definition
|
|
Term
|
Definition
| anabolic processes, respiratory burst, P450, glutathione reductase |
|
|
Term
| Which enzyme that phosphorylates glucose is induced by insulin? |
|
Definition
| glucokinase (hexokinase is not induced by insulin) |
|
|
Term
| Which glucose phosphorylating agent is inhibited via feedback? |
|
Definition
| hexokinase is inhibited via negative feedback by glucose-6-phosphate; glucokinase is inhibited via fructose 6 phosphate |
|
|
Term
| What step of glycolysis require ATP? |
|
Definition
| hexokinase/glucokinase step and phosphofructokinase 1 step (fructose 6 phophate to fructose-1,6-bisphophate) |
|
|
Term
| What steps of glycolysis produce ATP? |
|
Definition
| phosphoglycerate kinase (1,3 BPG to 3-PG); pyruvate kinase (phosphoenolpyruvate to pyruvate), and pyruvate dehydrogenase (pyruvate to acetyl Co-A) |
|
|
Term
| What molecules regulate the action of phosphofructokinase-1? |
|
Definition
| negative= ATP and citrate; positive= AMP and fructose-2,6-BP |
|
|
Term
| What enzymes make/break down fructose-2,6-bisphosphate? |
|
Definition
| fructose bisphosphatase 2 is active in the fasting state; phosphofructokinase 2 is active in the fed state |
|
|
Term
| What is the function of alpha ketoglutarate dehydrogenase complex? |
|
Definition
| converts alpha ketoglutarate into succinyl-CoA |
|
|
Term
| What are the findings of arsenic poisoning? |
|
Definition
| arsenic inhibits lipoic acid; leading to vomiting, rice water stools, garlic breath |
|
|
Term
| How is pyruvate dehydrogenase complex activated by exercise? |
|
Definition
| it increases NAD+/NADH ratio; increases ADP, increases calcium |
|
|
Term
| Name the purely ketogenic amino acids? |
|
Definition
|
|
Term
| Name the amino acids that are both ketogenic and glucogenic? |
|
Definition
| tryptophan, tyrosine, phenylalanine, isoleucine |
|
|
Term
| What are the findings of pyruvate dehydrogenase deficiency? |
|
Definition
| backup of substrate (pyruvate and alanine) which can result in lactic acidosis; symptoms= neurologic deficits |
|
|
Term
| How do you treat pyruvate dehydrogenase deficiency? |
|
Definition
| intake of ketogenic nutrients; e.g. high fat content or increased lysine and leucine |
|
|
Term
| Anaerobic glycolysis is often performed in which cells? |
|
Definition
| RBCs, leukocytes, kidney medulla, lens, testes, and cornea |
|
|
Term
| What are the products from the conversion of pyruvate to acetyl CoA? |
|
Definition
|
|
Term
| What molecules alter pyruvate dehydrogenase activity? |
|
Definition
| ATP, acetyl-CoA, NADH all have negative feedback on pyruvate dehydrogenase |
|
|
Term
| What are teh products of the TCA cycle? |
|
Definition
| 3 NADH, 1 FADH2, 2 CO2, 1 GTP per acetyl CoA= 12 ATP per actyl CoA |
|
|
Term
| Name the intermediates of the TCA cycle? |
|
Definition
| acetyl coA and oxaloacetate--> citrate, isocitrate, alpha ketoglutarate, succinyl CoA, succinate, fumarate, malate, oxaloacetate |
|
|
Term
| What molecules alter citrate synthase? |
|
Definition
|
|
Term
| What molecules alter actin of isocitrate dehydrogenase? |
|
Definition
|
|
Term
| What molecules inhibit alpha ketoglutarate dehyrogenase? |
|
Definition
|
|
Term
| How many ATP per NADH? FADH2? |
|
Definition
| NADH= 3 ATP; FADH2= 2 ATP |
|
|
Term
| Which complex of the ETC gives teh electrons to O2? |
|
Definition
|
|
Term
| Which complex of the electron transport chain makes ATP? |
|
Definition
|
|
Term
| What substances inhibit complex IV? |
|
Definition
|
|
Term
| What is the effect of rotenone? |
|
Definition
| electron transport inhibitors |
|
|
Term
| What is teh effect of antimycin A? |
|
Definition
| electron tranport inhibitor |
|
|
Term
| What is the effect does oligomycin have on teh body? |
|
Definition
|
|
Term
| Name some uncoupling agents? |
|
Definition
| 2,4-dinitrophenol, aspirin, thermogenin |
|
|
Term
| Name the irreversible enzymes of gluconeogenesis? |
|
Definition
| pyruvate carboxylase, PEP carboxykinase, fructose-1,6-bisphosphatase, glucose 6-phosphatase |
|
|
Term
| What is teh action of pyruvate carboxylase? |
|
Definition
| in mitochondria; converts pyruvate to oxaloacetate (requires biotin and ATP; activated by acetyl-CoA) |
|
|
Term
| What is the action of PEP carboxykinase? |
|
Definition
| located in the cytosol; turns oxaloacetate into phosphoenolpyruvate; requires GTP |
|
|
Term
| What is the action of fructose-1,6-bisphosphatase? |
|
Definition
| in cystosol; fructose 1,6 isphosphate to fructose 6 phosphate |
|
|
Term
| What is the action of glucose 6 phosphatase? |
|
Definition
| in ER; converts glucose-6-P into glucose |
|
|
Term
| Where else besides the liver are the enzymes of gluconeogenesis found? |
|
Definition
| kidney and intestinal epithelium |
|
|
Term
| Why can't muscle participate in gluconeogenesis? |
|
Definition
| it lacks glucose 6 phosphatase |
|
|
Term
| How do you get gluconeogenesis from fat? |
|
Definition
| you need odd chain fatty acids to yield propionyl CoA during metabolism which can enter the TCA cycle as succinyl-CoA and tereby undergo gluconeogenesis (even chain fatty acids cannot produce new glucose since they yield only acetyl-CoA equivilants) |
|
|
Term
| T/F No ATP is used or produced in teh HMP shunt (pentose pohsphate pathway). |
|
Definition
|
|
Term
| Besides NADPH, the HMP shunt also produces... |
|
Definition
| ribose for nucleotide synthesis and glycolytic intermediates |
|
|
Term
| Where is the HMP shunt particularly important? |
|
Definition
| lactating mammary glands, liver, adrenal cortex, RBCs |
|
|
Term
|
Definition
| reversible enzyme in the HMP shunt that requires B1 |
|
|
Term
| What is teh action of superoxide dismutase? |
|
Definition
| converts superoxide into hydrogen peroxide |
|
|
Term
| What is the function of myeloperoxidase? |
|
Definition
| joins chloride with hydrogen peroxide to form hypochloric acid to kill bacteria |
|
|
Term
| What is the function of bacterial catalase? |
|
Definition
| to convert H202 (generated by NADPH oxidase and superoxide dismutase) into water and O2 |
|
|
Term
| What kinds of drugs can precipitate a hemolytic anemia in patients with G6PD deficiency? |
|
Definition
| fava beans, sulfonamides, primaquine, anti-tuberculosis drugs |
|
|
Term
| What is the most common human enzyme deficiency that causes disease? |
|
Definition
|
|
Term
| What enzyme do humans use to breakdown hydrogen peroxide? |
|
Definition
| glutathione peroxidase/catalase |
|
|
Term
| What is the enzyme defective in essential fructosuria? |
|
Definition
|
|
Term
| What is the enzyme deficient in fructose intolerance? |
|
Definition
| aldolase B; fructose-1-phosphate accumulates causing a decrease available phosphate which results in inhibition of glycogenolysis and gluconeogenesis |
|
|
Term
| What are teh symptoms of fructose intolerance? |
|
Definition
| hypoglycemia, ,jaundice, cirrhosis, vomiting |
|
|
Term
| What are the symptoms of galactokinase deficiency? |
|
Definition
| galactitol accumulates; galacotse appears in blood and urine, and infantile cateracts; may initially present as failure to track objects or to develop a social smile |
|
|
Term
| What is teh defect in classic galactosemia? |
|
Definition
| absence of galactose 1 phosphate uridyltransferase; damage is caused by accumulation of toxic substances (including galactitol which accumulates in teh lens of the eye) |
|
|
Term
| What are the symptoms of classic galactosemia? |
|
Definition
| failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation |
|
|
Term
| How is sorbitol metabolized? |
|
Definition
| via sorbitol dehydrogenase and NAD+ into fructose |
|
|
Term
| What is the cofactor for aldose reductase? |
|
Definition
|
|
Term
| Which cells have only adlose reductase and not sorbitol dehydrogenase? |
|
Definition
| schwann cells, lens, retina, and kidneys |
|
|
Term
| Which tissues have both aldose reductase and sorbitol dehydrogenase? |
|
Definition
| liver, ovaries, and seminal vesicles |
|
|
Term
| Name the essential amino acids? |
|
Definition
| leucine, lysine, isoleucine, tryptophan, phenylalanine, tyrosine, methionine, valine, arginine, and histidine |
|
|
Term
| Name the glucogenic amino acids? |
|
Definition
| methionine, valine, arginine, and histidine |
|
|
Term
| Name the basic amino acids. |
|
Definition
| arg, lys and his (arg is most basic; his has no charge at body pH) |
|
|
Term
| Which amino acids are essential during periods of growth? |
|
Definition
|
|
Term
| Name the intermediates of the urea cycle? |
|
Definition
| ornithine + carbamoyl phosphate (via ornithine transcarbamoylase) make citruline (with aspartate via argininosuccinate synthetase) makes argininosuccinate (argininosuccinase which yeilds fumarate and) arginine (arginase to urea and ornithine |
|
|
Term
| Where do the two nitrogens of urea come from? |
|
Definition
| one from ammonia, the other from aspartate |
|
|
Term
| What amino acid is used to transport ammonium? |
|
Definition
|
|
Term
| What are the effects of hyperammonemia? |
|
Definition
| excess NH4+ depletes alpha-ketoglutarate, leading to inhibition of TCA cycle |
|
|
Term
| What is the treatment for hyperammonemia? |
|
Definition
| limit protein in diet, benzoate or phenylbutyrate (both of which bind amino acid and lead to excretion) may be given to decrease ammonia levels |
|
|
Term
| What are the laboratory findings of ornithine transcarbamoylase deficiency? |
|
Definition
| increased orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia |
|
|
Term
| What are the derivatives of tryptophan? |
|
Definition
| need B6 to convert it into niacin; need BH4 to convert it into serotonin and then melatonin |
|
|
Term
| What cofactor is needed to convert histidine into histamine? |
|
Definition
|
|
Term
| What are the amino acid derivatives of glycine? |
|
Definition
| need B6 to convert it into porphyrin and then heme |
|
|
Term
| What is the rate limiting step of heme synthesis? |
|
Definition
|
|
Term
| What are the derivatives of arginine? |
|
Definition
| creatine, urea, nitric oxide |
|
|
Term
| What are the amno acid derivatives of glutamate? |
|
Definition
| B6 to get GABA; or glutathione |
|
|
Term
| Name the enzymes and cofactors to get from phenylalanine to epinephrine. |
|
Definition
| phenylalanine hydroxylase (THB with NADPH), tyrosine hydroxylase (THB with NADPH), DOPA decarboxylase (vitamin B6), dopamine beta-hydroxylase (vitamin C), phenylethanolamine N-methyltransferase (SAM) |
|
|
Term
| What is the breakdown product of dopamine? |
|
Definition
|
|
Term
| What is the breakdown product of epinephrine? |
|
Definition
|
|
Term
| What is the breakdown product of norepinephrine? |
|
Definition
|
|
Term
| What molecule can enhance the action of phenylethanolamine N-methyl transferase? |
|
Definition
|
|
Term
| WHen should you screen for phenylketonuria? |
|
Definition
|
|
Term
| What are the phenylketones? |
|
Definition
| phenylacetate, phenyllactate, phenylpyruvate |
|
|
Term
| T/F Phenylketonuria can lead to eczema. |
|
Definition
|
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Term
| What are the malformations associated with maternal PKU? |
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Definition
| microcephaly, mental retardation, growth retardation, congenital heart defects |
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Term
| What is teh deficiency of alkaptonuria? |
|
Definition
| homogentistic acid oxidase in the degradative pathway of tyrosine to fumarate |
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Term
| What is the inheritance of ocular albinism? |
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Definition
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Term
| Describe the three forms of homocystinuria? |
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Definition
| 1) cystathione synthase deficiency 2) decreased affinity of cystathione synthase for pyridoxal phosphate 3) homocysteine methyltransferase deficiency |
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Term
| What amino acid becomes essential in homocystinuria? |
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Definition
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Term
| What is the treatment for cystathione synthase deficiency? |
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Definition
| decrease methionine; increase cysteine and B12 and folate |
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Term
| What is the treatment for decreased affinity of cystathionine synthase for pyridoxal pohsphate? |
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Definition
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Term
| What are the findings associated with homocystinuria? |
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Definition
| increased homocystine in urine, mental retardation, osteoporosis, tall stature, kyphosis, len subluxation (downward and inward), and atherosclerosis (stroke and MI) |
|
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Term
| What reaction does cystathioinine synthase catalyze? |
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Definition
| homocystine and serine with the help of B6 into cystathioinine |
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Term
| Cystathionine is broken down into... |
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Definition
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Term
| What is the defect in cystinuria? |
|
Definition
| hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine and arginine in the PCT of the kidneys; leads to kidney stones |
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|
Term
| What is the treatment for cystinuria? |
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Definition
| acetazolamide to alkalinize the urine |
|
|
Term
| What is the relationship between cystine and cysteine? |
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Definition
| cystine is made of 3 cysteines connected by a disulfide bond |
|
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Term
| What is the deficient enzyme in MSUD? |
|
Definition
| alpha ketoacid dehydrogenase |
|
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Term
| What is the deficiency associated with Hartnup disease? |
|
Definition
| defective neutral amino acid transporter on renal and intestinal epithelial cells; causes tryptophan excretion in urine and decreased absorption from the gut leading to pellagra |
|
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Term
| How is glycogen regulated by insulin and glucagon/epinephrine? |
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Definition
| increased cAMP and protein kinase A pohsphorylates glycogen phosphorylase kinase to make it active; it phosphorylates glycogen pohsphorylase which then can break down glycogen |
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|
Term
| What activates glycogen phophorylase kinase in muscle tissue? |
|
Definition
| calcium calmodulin in muscle can activate phosphorylase kinase so that glycogenolysis is coordinated with muscle activity |
|
|
Term
| How does insulin regulate glycogen metabolism? |
|
Definition
| tyrosine kinase activates protein phosphatase that can dephosphorylate both glycogen phosphorylase kinase and glycogen phosphorylase to inactivate them both |
|
|
Term
| What are the bonds that link glucose molecules together as glycogen? |
|
Definition
| branches have alpha (1,6) bonds; linkages have alpha (1,4) bonds |
|
|
Term
| List the first reaction of glycogen synthesis? |
|
Definition
| glucose-1-phosphate is turned into UDP-glucose via UDP-glucose pyrophosphorylase |
|
|
Term
| What is the deficient enzyme in von Gierke's disease? |
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Definition
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|
Term
| What is the deficient enzyme in pompe's disease? |
|
Definition
| lysosomal alpha 1,4 glucosidase (acid maltase) |
|
|
Term
| What is the deficient enzyme in Cori's disease? |
|
Definition
| debranching enzyme (alpha 1,6 glucosidase) |
|
|
Term
| What is the deficient enzyme in McArdle's disease? |
|
Definition
| skeletal muscle glycogen phosphorylase |
|
|
Term
| What are teh findings in von gierke's disease? |
|
Definition
| severe fasting hypoglycemia, increased glycogen in the liver, increased blood lactate and hepatomegally |
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|
Term
| What are the findings of Cori's disease? |
|
Definition
| milder form of type 1 with normal blood lactate levels |
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|
Term
| What is the deficient enzyme in fabry's disease and the accumulated substrate? |
|
Definition
| alpha galactosidase A; accumulated ceramide trihexoside |
|
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Term
| What is the deficient enzyme and accumulated substrate of gaucher's disease? |
|
Definition
| glucocerebrosidase; glucocerebroside |
|
|
Term
| What are the findings in Fabry's disease? |
|
Definition
| peripheral neuropathy of hands/feet; angiokeratomas, cardiovascular/renal disease |
|
|
Term
| What are the findings in Gaucher's disease? |
|
Definition
| hepatosplenomegally, aseptic necrosis of the femur, bone crises, gaucher's cells (macrophages that look like crumpled tissue paper) |
|
|
Term
| What is the most common sphingolipidosis? |
|
Definition
|
|
Term
| What are the findings in Niemann-Pick disease? |
|
Definition
| progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells |
|
|
Term
| What is the deficient enzyme and accumulated substrate of Neimann-Pick disease? |
|
Definition
| deficient enzyme is sphingomyelinase; accumulated substrate is sphingomyelin |
|
|
Term
| What are the findings in Tay-Sachs disease? |
|
Definition
| progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegaly (versus Neiman Pick) |
|
|
Term
| What is the deficient enzyme and accumulated substrate of tay-sachs diseae? |
|
Definition
| deficient enzyme= hexosaminidase A; accumulated substrate= GM2 ganglioside |
|
|
Term
| What are the findings in Krabbe's disease? |
|
Definition
| peripheral neuropathy, developmental delay; optic atrophy, globoid cells |
|
|
Term
| What is the deficient enzyme and accumulated substrate of krabbe's disease? |
|
Definition
| beta galactocerebrosidase; galactocerebroside accumulates |
|
|
Term
| What are the findings in metachromatic leukodystrophy? |
|
Definition
| central and peripheral demyelination with ataxia and dementia |
|
|
Term
| What is the deficient enzyme and accumulated substrate of metachromatic leukodystrophy? |
|
Definition
| arylsulfatase A; cerebroside sulfate |
|
|
Term
| What are the findings of Hurler's syndrome? |
|
Definition
| developmental delay; gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
|
|
Term
| What is the deficient enzyme and accumulated substrate for Hurler's syndrome? |
|
Definition
| alpha-L-iduronidase; heparan and dermatan sulfate |
|
|
Term
| What are the findings in Hunter's syndrome? |
|
Definition
| mild Hurler's + aggressive behavior; no corneal clouding |
|
|
Term
| What is the deficient enzyme and accumulated substrate of Hunter's syndrome? |
|
Definition
| iduronate sulfatase; heparan sulfate and dermatan sulfate accumulate |
|
|
Term
| Which Sphingolipidoses have a higher incidence in ashkenazi jews? |
|
Definition
| Neimann-Pick, Tay-Sachs, and some forms of gaucher's disease |
|
|
Term
| What are the symptoms of carnitine deficieny? |
|
Definition
| inability to transport LCFAs into the mitochondria resulting in toxic accumulation; causes weakness, hypotonia and hypoketotic hypoglycemia |
|
|
Term
| What are the effects of a deficiency in Acyl-CoA dehydrogenase deficiency? |
|
Definition
| increased dicarboxylic acids; increase glucose and ketones |
|
|
Term
| What causes ketoacidosis in diabetes and prolonged starvation? |
|
Definition
| oxaloacetate is depleted for gluconeogenesis which stalls the TCA cycle and shunts glucose and FFA towards teh production of ketone bodies |
|
|
Term
| What causes ketoacidosis in alcoholism? |
|
Definition
| excess NADH shunts oxaloacetate to malate which stalls the TCA cycle and shunts glucose and FFA towards the production of ketone bodies |
|
|
Term
| How long does it take to use up glycogen stores? |
|
Definition
|
|
Term
| During days 1 to 3 of starvation, the liver performs gluconeogenesis by... |
|
Definition
| peripheral lactate and alanine and from adipose tissue glycerol and propionyl CoA |
|
|
Term
| When during starvation do ketone bodies become the main source of energy for the brain and heart? |
|
Definition
|
|
Term
| What happens during starvation after adipose tissue is depleted? |
|
Definition
| vital protein degredation accelerates leading to organ failure and death |
|
|
Term
| What is the reaction catalized by HMG-CoA reductase? |
|
Definition
|
|
Term
| 2/3 of plasma cholesterol is esterified by... |
|
Definition
| lecithin-cholesterol acyltranferase |
|
|
Term
| What is teh function of lipoprotein lipase? |
|
Definition
| degredation of TG circulating in chylomicrons and VLDLs |
|
|
Term
| What is the function of hepatic TG lipase? |
|
Definition
| degradation of TG remaining in IDL |
|
|
Term
| What is the function of hormone sensitive lipase? |
|
Definition
| degradation of TG stored in adipocytes |
|
|
Term
|
Definition
| cholesterol ester transfer protein; mediates the transfer of cholesterol esters to other lipoprotein particles |
|
|
Term
| What is the function of ApoE? |
|
Definition
| mediates remnant uptake; on all lipoprotein prarticles except for LDL |
|
|
Term
| What is the function of Apo-A1? |
|
Definition
| activate LCAT; found on chylomicrons and HDL |
|
|
Term
| What is the function of Apo C II? |
|
Definition
| lipoprotein lipase cofactor; found on chylomicrons and VLDL |
|
|
Term
| What is the function of Apo B-48? |
|
Definition
| mediates chylomicron secretion (on chylomicrons and chylomicron remnants) |
|
|
Term
|
Definition
| binds LDL receptor; on VLDL, IDL, LDL |
|
|
Term
| What is the function of IDL? |
|
Definition
| formed in the degradation of VLDL; delivers triglycerides and cholesterol to liver, where they are degraded to LDL |
|
|
Term
| What is the function of LDL? |
|
Definition
| delivers hepatic cholesterol to peripheral tissues; formed by lipoprotein lipase modification of VLDL in the peripheral tissues; taken up by target cells via receptor mediated endocytosis |
|
|
Term
| What is the function of HDL? |
|
Definition
| mediates reverse cholesterol transport from periphery to liver; acts as a repository for apoC and apo E (which are needed for chylomicron and VLDL metabolism), secreted from both liver and intestines |
|
|
Term
| What is pathophysiology of type I hyperchylomicronemia? |
|
Definition
| lipoprotein lipase deficiency or altered apolpoprotein C-II; causes increased cylomicrons (increased TG and cholesterol) with pancreatitis, hepatosplenomegally or eruptive/pruritic xanthomas (no increased risk of atherosclerosis) |
|
|
Term
| What are the complications of type IIa familial hypercholesterolemia? |
|
Definition
| accelerated atherosclerosis, tendon (achilles) xanthomas, and corneal arcus |
|
|
Term
| What is the pathophysiology of type IV familial dyslipidemia? |
|
Definition
| hepatic overproduction of VLDL (increased TGs on lipid panel) causes pancreatitis |
|
|
Term
| What are the symptoms of abeta lipoproteinemia? |
|
Definition
| failure to thrive, steatorrhea, acanthocytosis, ataxia and night blindness that occurs within the first few months of life |
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