Term
|
Definition
In ability to convert orotic acid to UMP (de novo pyrimidine synthesis pathway) due to defect in either orotic acid phophribosytransferase or orotidine 5'-phophate decarboxylase. Autosomal recessive.
incr orotic acid in urine, megalobastic anemia (does not improve with
B12 or folic acid), failure to thrive. No hyperammonemia (vs. OTC def - incr orotic acid with hyperammonemia).
Treatment: oral uridine admin. |
|
|
Term
|
Definition
| inhibits ribonucleotide reductase |
|
|
Term
|
Definition
| blocks de novo purine synthesis by blocking amidotransferase |
|
|
Term
|
Definition
| inhibits thymidylate synthase (decr dTMP) |
|
|
Term
|
Definition
| inhibits dihydrofolate reductase (decr dTMP) |
|
|
Term
|
Definition
| inhibits bacterial dihydrofolate reductase (decr dTMP) |
|
|
Term
|
Definition
| inhibits xanthine oxidase, interfering w/ conversion of hypoxanthine and xanthine to uric acid |
|
|
Term
|
Definition
Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of rbonucleotide reductase.
prevents DNA synthesis and thus decr lumphocyte count. One of the major causes of SCID |
|
|
Term
|
Definition
defective purine salvage owing to absence of HGPRT, which converts hypoxanthine to IMP and guanine to GMP. Results in excess uric acid production. decr feedback inhibition on amidotransferase.
Findings: retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis |
|
|
Term
| charge of lysine and arginine |
|
Definition
| positive so they can bind with negatively charged DNA as a part of histone |
|
|
Term
|
Definition
| condensed, transcriptionally inactive, sterically inaccessible. |
|
|
Term
|
Definition
| Less condensed, transcriptionally active, sterically accessible |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| substituting purine to purine and pyrimidine for pyrimidine |
|
|
Term
|
Definition
conVersion between types.
Substituting purine for pyrimidine or vice versa |
|
|
Term
|
Definition
| inhibit DNA gyrase (specific prokaryotic topoisomerase) |
|
|
Term
| hereditary nonpolyposis colorectal cancer (HNPCC) |
|
Definition
|
|
Term
|
Definition
UGA - you go away
UAA - you are away
UAG - u are gone |
|
|
Term
|
Definition
| found in death cap mushrooms, inhibits RNA polymerase II, causes liver failure if ingested |
|
|
Term
|
Definition
1. primary transcript combines with snRNPs and other proteins to form spliceosome.
2. lariat shaped (looped) intermediate is generated
3. lariat is released to remove intro precisely and join 2 exons.
Pt with lupus makes antibodies to spliceosomal snRNPs |
|
|
Term
| aminoacyl-tRNA synthetase |
|
Definition
| 1 per AA, a matchmaker that uses ATP, it scrutinizes AA before and after it binds to tRNA |
|
|
Term
|
Definition
| binds to 30S usbunit, preventing attachment of aminoacyl-tRNA |
|
|
Term
| what activates elongation factor? |
|
Definition
|
|
Term
|
Definition
| inhibit formation of the initiation complex and cause misreading of mRNA |
|
|
Term
|
Definition
| inhibits 50S peptidyltransferase |
|
|
Term
|
Definition
| bind 50S, blocking translocation |
|
|
Term
|
Definition
| Binds 50S, blocking translocation |
|
|
Term
| What kind of proteins do free ribosomes synthesize? |
|
Definition
| cytosolic and organellar proteins |
|
|
Term
| what kind of cells are rich in SER? |
|
Definition
| liver hepatocytes and steroid hormones |
|
|
Term
| what kind of cells are rich in RER |
|
Definition
| mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells |
|
|
Term
|
Definition
a vescicular trafficiking protein
retrograde, Golgi to ER |
|
|
Term
|
Definition
a vesicular trafficking protein
anterograde
RER to cis-Golgi |
|
|
Term
|
Definition
a vesicular trafficiking protein,
trans-golgi to lysosome
plasma membrane to endosomes (receptor mediated endocytosis) |
|
|
Term
|
Definition
AKA inclusion cell disease
inherited lysosomal storage disorder; failure of addition of mannose-6-phosphate to lysosome proteins (enzymes are screted outside the cell instead of being targeted to the lysosome). Results in coarse facial feature features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood |
|
|
Term
| Drugs that act on microtubules |
|
Definition
Mebendazole/thiabendazole (antihelminthic)
Griseofulvin (antifungal)
Vincristine/vinblastine (anti-cancer)
Paclitaxel (anti-breast cancer)
Colchicine (anti-gout) |
|
|
Term
|
Definition
| microtubule polymerization defect, result in decr phagocytosis, recurrent pyogenic infections, partial albinism, and peripheral neuropathy |
|
|
Term
|
Definition
AKA primary ciliary dyskinesia
immotile cilia due to dynein arm defect. Results in male and female infertility (sperm immotile), bronchiectasis, and recurrent sinusitis (bacteriaand particles not pushed out); associated with situs inversus. |
|
|
Term
| What do microtubules make? |
|
Definition
| Cilia, flagella, mitotic spindle, neurons, centrioles |
|
|
Term
| what is made of intermediate filaments |
|
Definition
| Vimentin, desmin, cytokeratin, glial bibrillary acid proteins (GFAP), neurofilaments) |
|
|
Term
What are the following immunohistochemical stains for?
Vimentin
Desmin
Cytokeratin
GFAP
Neurofilaments |
|
Definition
Vimentin - connective tissue
Desmin - muscle
Cytokeratin - epithlial cells
GFAP - Neuroglia
Neurofilaments - Neurons |
|
|
Term
|
Definition
| inhibits sodium/potassium pump by bind to K+ side |
|
|
Term
|
Definition
| they are drugs like digoxin and digitoxin. It directly inhibits Na/K ATPase which leads to indirect inhibition of Na/Ca exchange, incr intracelluar Ca -> incr cardiac contractility |
|
|
Term
What do the following collagen make?
Type I
Type II
Type III
Type IV |
|
Definition
type I - Bone, Skin, Tendon, Dentin, Fascia, cornea, late wound repair
Type II - Cartilage (including hyaline), vitreous body, nucleus pulposus.
Type III - (Reticulin) Skin, blood vessels, uterus, fetal tissue, granulation tissue.
Type IV - Basement membrane or basal lamina |
|
|
Term
|
Definition
Faulty collagen synthesis effecting mostly type III
1. hperextensible skin
2. Tendency to bleed (easy bruising)
3. hypermobile joints
Associated with joint dislocation, berry aneurysms, organ rupture. |
|
|
Term
|
Definition
brittle bone disease caused by gene defects, autosomal dominant
1. multiple fractures
2. Blue Sclerae
3. hearing loss
Dental imperfections due lack of dentin |
|
|
Term
|
Definition
abnormal type IV collagen, X-linked recessive.
Can't see
Can't pee
Can't hear
type IV collagen is an important component of the basement membrane of the kidney, ears, and eyes |
|
|
Term
|
Definition
Autosomal dominant
defect in fibrillin. Elastins are made by tropoelastin with fibrillin scaffolding
Findings: tall with long extremities, pectus exavatum, hyperextensive joints, and long tapering fingers and toes, cystic medial necrosis of aorta -> aortic imcompetence and dissecting aortic aneurysms; floppy mitral value. Subluxation of lenses. asso with berry aneurysm. |
|
|
Term
|
Definition
| can be caused by alpha antitrypsin def, resulting in excess elastase activity |
|
|
Term
|
Definition
Deletion of normally active Paternal allele.
Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia. |
|
|
Term
|
Definition
| Deletion of normally active Maternal allele. Mental retardation, seizusres, ataxia, inappropriate laughter ("happy puppet"). |
|
|
Term
|
Definition
X-linked dominant.
formerly known as vitamin D-resistant rickets. Inherited disorder resulting in incr phophate wasting at PCT. Results in rickets like presentation. |
|
|
Term
| Mitochondrial myopahties, Leber's hereditary optic neuropathy |
|
Definition
Mitochondrial inheritance
degeneration of retinal ganglion cells and axons. Leads to acute loss of central vision. |
|
|
Term
|
Definition
Autosomal dominant
Cell-signallying defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism; short limbs, but head and trunk are normal size. Asso. with advanced paternal age. |
|
|
Term
| Autosomal-dominant polycystic kidney disease (ADPKD) |
|
Definition
| AKA adult polycyctic kidney disease. Always bilateral, massive enlargement of kidneys due to multiple large cycts. Pt presents with flank pain, hematuria, hypertension, progressive renal failure. mutations in APKD1. Asso. with polycyctic liver disease, berry aneurysms, mitral valve prolapse. infantile form is recessive. |
|
|
Term
| Familial adenomatous polyposis (FAP) |
|
Definition
Autosomal dominant
colon becoemes covered with adnomatous polyps after puberty. Progresses to colon cancer unless resected. APC gene. |
|
|
Term
| Familial hypercholesterolemia (hyperlipidmia type IIa) |
|
Definition
autosomal dominant
Elevated LDL due to defective or absent LCL receptor.
Heterozygotes - 300mg/dL
Momozygotes - 700+mg/dL
severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20. Asso. with hypertrophic cardiomyopathy |
|
|
Term
| Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) |
|
Definition
Autosomal dominant
Inherited disorder of blood vessels.
Findings: telangiectasia, recurrent epistaxis, skin discolorations, arterovenous malformations (AVMs) |
|
|
Term
| Hereditary sphereocytosis |
|
Definition
autosomal dominant
spheroid erthrocytes due to spectrin or ankyrin defect; hemolytic anemia; incr MCHC. Cure with splenectomy. Test with osmotic fragility test |
|
|
Term
|
Definition
autosomal dominant
Depression, progressive dementia, choreiform movements, caudate atrophy, and decr elvels of GABA and ACh in the brain. Symptoms manifest in affected individuals between the ages of 20 and 50. CAG repeat on chromosome 4 |
|
|
Term
Neurofibromatosis type 1
(von Recklinghausen's disease) |
|
Definition
autosomal dominant
cafe au lait spots, nueral tumors, lisch nodules (pigmented iris hamartomas). also marked by skeletal disorders (eg scoliosis), optic pathway gliomas, pheochromocytoma, and incr tumor susceptibility. |
|
|
Term
|
Definition
autosomal dominant
Bilateral acoustic neuroma, juvenile cataracts. NF2 gene on chromosome 22 |
|
|
Term
|
Definition
autosomal dominant
findings: facial lesions (adenoma sebaceum), hypopigmented "ash left spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, incr incidence of astrocytomas. Incomplete penetrance, variable presentation. |
|
|
Term
| Von Hippel-Lindau disease |
|
Definition
autosomal dominant.
hemagioblastomas of retinal/cerebellum/medulla; about half of affected indivduals develop multiple bilateral renal cell carcinoma and other tumors. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3. Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors. |
|
|
Term
| Duchenne's Muscular dystrophies |
|
Definition
X-linked frame shift mutation -> deletion of dystrophin gene ->accelerated muscle breakdown. Weakness begins in plevic girdle muscles and progresses superiorly.
Pseudohypertrophy of calf muscles due to fibrofatty replacement of msucle; cardiac myopathy. Use of Gower's maneuver, requiring assist of supper extremities to stand up, is characteristic. Onset before 5 years of age. Dystrophin gene is the longest known human gene -> incr rate of mutation. Dystrophin helps anchor muscle fibers, primarily in skeletal and cardiac muscle. |
|
|
Term
| Becker's muscular dystrophies |
|
Definition
| X-linked mutated dystrophin gene. Less severe than Duchenne's. Onset in adolescence or early adulthood |
|
|
Term
|
Definition
X-linked defect affecting the methylation and expression of the FMR1 gene. Asso. with chromosomal breakage. The 2nd most common cause of genetic mental retardation after Down syndrome).
Findings:macro-orchidism(enlarged testes), long face with a large jaw, large everted ears, autism, mitral valve prolapse.
Trinucleotide repeat disorder (CGG)
Fragile X = extra-large testes, jaw, ears. |
|
|
Term
| Trinucleotide repeat expansion diseases |
|
Definition
Huntington's disease(CAG)
MyoTonic dystrophy(CTG)
FraGile X syndrome(CGG)
Friedreich's ataxia(GAA) |
|
|
Term
| Down syndrome's clinical features |
|
Definition
| mental retardation, flat facies, prominent epicanthal folds, simian crease, gap b/t, duodenal atresia, congenital heart disease (most commonly spetum primum-type ASD). Associated with incr risk of ALL and Alzheimer's disease |
|
|
Term
|
Definition
| decr alpha fetoprotein, incr beta hCG, decr estril, incr inhibin A, unltrasound shows incr nuchal translucency |
|
|
Term
|
Definition
Trisomy 18
Finds; severe mental retardation, rocker bottom feet, micrognathia(small jaw), low set ears, clenched hands, prominent occiput, congenital heart disease. Death usually occurs within 1 year of birth. |
|
|
Term
|
Definition
trisomy 13
severe mental retardation, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holprosencephaly, polydactyly, congenital heart disease. Death usually occurs within 1 year of birth |
|
|
Term
|
Definition
congenital microdeletion of short arm of chromosome 5
findings: microcephaly, moderate to severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities |
|
|
Term
|
Definition
congenital microdeletion of short arm of chromosome 5
findings: microcephaly, moderate to severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities |
|
|
Term
|
Definition
congenital microdeletion of long arm of chromosome 7(deleted region includes elastin gene).
Findings: distinctive "elfin" facies mental retardation, hypercalcemia (incr sensitivity to vit D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems. |
|
|
Term
|
Definition
22q11
thymic, parathyroid, and cardiac defects |
|
|
Term
| Velocardiofacial syndrome |
|
Definition
22q11
palate, facial, and cardiac defects |
|
|
Term
|
Definition
| AKA xerophthalmia, dry eye, caused by vitamin A def |
|
|
Term
| what vitamin def causes squamous metaplasia (keratinized epithelia) |
|
Definition
|
|
Term
| What is isotretinoin (accutane) similar to? |
|
Definition
| Vitamin A, so pregnant women need avoid it because it is a teratogen |
|
|
Term
| What is the enzyme that only needs thiamine to work |
|
Definition
| transketolase, which is involved in HMP shunt |
|
|
Term
| what are some of the conditions caused by thiamine deficiency |
|
Definition
Impaired glucose breakdown -> ATP depletion.
Wernicke-Korsakoff
Dry beriberi
Wet beriberi |
|
|
Term
| what can cause thiamine def? name two |
|
Definition
| malnutrition and alcoholism |
|
|
Term
|
Definition
| confusion, opthalmoplegia, ataxia + memory loss, confabulation, personality change |
|
|
Term
|
Definition
| polyneuritis, symmetrical muscle wasting |
|
|
Term
|
Definition
| high-output cardiac failure (dilated cardiomyopathy), edema |
|
|
Term
|
Definition
| Riboflavin, cofactor in oxidation and reduction. FAD and FMN are derived from riboFlavin. Def causes Cheilosis and corneal vascularization. Megenta colored tongue |
|
|
Term
|
Definition
1. Hartnup disease (decr tryptophan absorption)
2. malignant carcinoid syndrome (incr tryptophan meta)
3. INH (decr vit B6) |
|
|
Term
| what kind of side effects would excess Vit B3 cause? |
|
Definition
| excess niacin can cause facial flushing |
|
|
Term
| Can niacin be used for lower LDL? |
|
Definition
|
|
Term
|
Definition
3 Ds
Diarrhea
Dermatitis ->hyperpigmentation in sun exposed area, casa's necklace
Dementia |
|
|
Term
|
Definition
Essential component of CoA and fatty acid synthase
Def causes dermatitis, enteritis, alopecia, adrenal insufficiency. |
|
|
Term
|
Definition
|
|
Term
| How does B6 def cause sideroblastic anemias? |
|
Definition
| Pyridoxine is needed for heme synthesis. Therefore iron builds up in mitochrondria -> sideroblastic anemia |
|
|
Term
| How does B12 def cause neuropathy? |
|
Definition
| build up of methylmalonyl-CoA |
|
|
Term
|
Definition
ATP + methionine -> SAM
SAM transfers methyl unit and becomes homocysteine. Regeneration of methionine needs Vit B12 and folate |
|
|
Term
| What are the three things carboxylation enzymes need to function |
|
Definition
|
|
Term
| What is the most common cause of biotin def |
|
Definition
| excessive ingestion of raw eggs |
|
|
Term
| What is vitamin E also known as? |
|
Definition
|
|
Term
| what is selenium used for |
|
Definition
| form glutathion antioxident |
|
|
Term
| What is the clinical symptoms of Vit K def |
|
Definition
| incr PT and PTT, but normal bleeding time |
|
|
Term
|
Definition
| transcription factor motif |
|
|
Term
|
Definition
| inhibits alcohol dehydrogenase |
|
|
Term
|
Definition
| AKA antabuse, inhibits acetaldehyde dehydrogenase |
|
|
Term
| What is the mech of enthanol hypoglycemia |
|
Definition
| Ethanol metabolism converts NAD+ to NADH in liver, causing diversion of pyruvate to lactate and OAA to malate, thereby inhibiting gluconeogenesis and stimulating fatty acid synthesis |
|
|
Term
|
Definition
protein malnutrition resulting in skin lesion, edema, liver malfunction.
eg: a small child with swollen belly
protein -def MEAL
Malnutrition
Edema
Anemia
Liver(fatty) |
|
|
Term
|
Definition
| energy malnutrition resulting in tissue and muscle wasting |
|
|
Term
| what is the rate determine enzyme of Glycolysis |
|
Definition
| Phosphofructokinase-1 (PFK-1) |
|
|
Term
| what is the rate determine enzyme of Gluconeogensis |
|
Definition
| Fructose-1,6-biophophatase |
|
|
Term
| what is the rate determine enzyme of TCA cycle |
|
Definition
|
|
Term
| what is the rate determine enzyme of glycogen synthesis? |
|
Definition
|
|
Term
| what is the rate determine enzyme of glycogenolysis? |
|
Definition
|
|
Term
| what is the rate determine enzyme of HMP shunt? |
|
Definition
| Glucose-6-phosphate dehydrogenase |
|
|
Term
| what is the rate determine enzyme of De novo pyrimidine synthesis? |
|
Definition
| Carbamoyl phosphate synthetase II |
|
|
Term
| what is the rate determine enzyme of de novo purine synthesis? |
|
Definition
| Glutamine-PRPP amidotranferase |
|
|
Term
| what is the rate determine enzyme of urea cycle? |
|
Definition
| Carbamoyl phosphate synthetase I |
|
|
Term
| what is the rate determine enzyme of fatty acid synthesis? |
|
Definition
| Acetyl-CoA carboxylase (ACC) |
|
|
Term
| what is the rate determine enzyme of fatty acid oxidation? |
|
Definition
| Carnitine acyltransferase I |
|
|
Term
| what is the rate determine enzyme of ketogenesis? |
|
Definition
|
|
Term
| what is the rate determine enzyme of cholesterol synthesis? |
|
Definition
|
|
Term
| what is the rate determine enzyme of heme synthesis? |
|
Definition
|
|
Term
| Where can hexokinase be found and what is its enzyme kinetics? |
|
Definition
| ubiquitous. high affinity (low Km) and low capacity (low Vmax), uninduced by insulin |
|
|
Term
| where can gluokinase by found and what is its enzyme kinetics? |
|
Definition
| Liver and beta cells of pancreas. Low affinity (high Km) and high capacity(high Vmax), induced by insulin. |
|
|
Term
|
Definition
most common glycolytic enzyme deficiency
1. hemolytic anemia
2. incr 2,3BPG
3. no Heinz bodies |
|
|
Term
|
Definition
| inhibits lipoic acid, which is needed for pyruvate dehydrogenase complex. Causes vomiting, rice water stool, garlic breath. |
|
|
Term
| What are the 5 co-factors for Pyruvate dehydrogenase complex? |
|
Definition
Tender loving Care For Nancy
Thiamine (pyrophosphate)
Lipoic acid
CoA (B5, pahtothenate)
FAD (B2, riboflavin)
NAD (B3, niacin) |
|
|
Term
| How to treat pyruvate dehydrogenase deficiency? |
|
Definition
incr intake of ketogenic nutrients
eg: high fat content or high lysine and leucine |
|
|
Term
| what are the two purely ketogenic amino acids? |
|
Definition
|
|
Term
| What are the 4 metabolic products of Pyruvate? |
|
Definition
1. Alanine (ALT)
2. oxaloacetae (pyruvate carboxylase)
3. Acetyl-CoA (pyruvate dehydrogenase)
4. Lactate (LDH) |
|
|
Term
|
Definition
| allows lactate generated during anaerobic metabolism to undergo hepatic gluconeogensis and become a source of glucose for muscle/RBC |
|
|
Term
| What are the 3 Tender Loving Care For Nancy enzymes? |
|
Definition
1. PDH
2. alpha ketoglutarate dehydrogenase (TCA)
3. Branched Chain ketoacid dehydrogenase (Maple Syrup urine disease) |
|
|
Term
|
Definition
| fixes Fe to 3+ state, stops electron transport chain. Treat with Nitrite |
|
|
Term
| What do Rotenone, CN-, antimycin A, and CO do? |
|
Definition
| they are electron transport inhibitors |
|
|
Term
|
Definition
|
|
Term
| What do 2,4 DNP, aspirin, and thermogenin have in common? |
|
Definition
| they are all uncoupling agents |
|
|
Term
| How do you get 2,4-DNP poisoning? |
|
Definition
| from woo preservation agents |
|
|
Term
| What causes chronic granulomatous disease? |
|
Definition
|
|
Term
|
Definition
decr NADPH in RBC leads to hemolytic anemia.
X-linked recessive, most common human enzyme deficiency, increased malarial resistance.
Heinz bodies - oxidized hemoglobin percipitation
Bite cells: removal of Heinz bodies by marophages |
|
|
Term
| What is the mech of Fructose intolerance? |
|
Definition
| hereditary def of aldolase B, autosomal recessive. fructose-1-phosphate accumulates, causing a decr in available phosphate, results in inhibition of glycogenolysis and gluconeogensis |
|
|
Term
| What are the symptoms and treatment of fructose intolerance? |
|
Definition
symptoms: hypoglycemia, jaundice, cirrhosis, vomiting.
treatment: decr intake of both fructose and sucrose |
|
|
Term
| what is the mech of essential fructosuria? |
|
Definition
| defect in fructokinase. Autosomal recessive. Benighn, asymptomatic, fructose does not enter cells |
|
|
Term
| what are the symptoms of essential fructosuria? |
|
Definition
| fructose appears in blood and urine |
|
|
Term
|
Definition
absence of galactose-1-phosphate uridyltransferase. Autosomal recessive.
symptoms:failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation.
Treatment: exclude galactose and lactose from diet |
|
|
Term
|
Definition
galactitol accumulation. Mild condition. Autosomal recessive.
symptoms: galactose in blood and urine, infantile cataracts. Failure to track objects or to develop a social smile |
|
|
Term
| what causes sorbitol accumulation? |
|
Definition
| the lack of sorbitol dehydrogenase in tissue such as schwann cells, lens, retina, and kidney |
|
|
Term
| What is aldose reductase? |
|
Definition
|
|
Term
| what AA are high level in histones? |
|
Definition
|
|
Term
| What two AA transport ammonium? |
|
Definition
|
|
Term
| what is the mech of ammonia intoxication? |
|
Definition
| excess NH4+ depletes alpha-ketoglutarate, leading to inhibition of TCA cycle |
|
|
Term
| what are the clinical signs of ammonia intoxication? |
|
Definition
| tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision |
|
|
Term
| Ornithine transcarbamoylase (OTC) deficiency |
|
Definition
Most common urea cycle disorder. X-linked recessive. excess carbamoyl phophate is converted to orotic acid.
Findings: orotic acid in blood and urine, decr BUN, symptoms of hyperammonemia |
|
|
Term
|
Definition
1. glucose
2. 6-phosphogluconolactone (HMP shunt)
3. Fructose-6-phosphate (part of glycolysis)
4. glucose-1-phosphate (on to glycogen synthesis) |
|
|
Term
| Derivatives of Phenylalanine |
|
Definition
Tyrosine->Thyroxine
Dopa->Melanin
Dopamine->NE->Epi |
|
|
Term
|
Definition
B6->Niacin->NAD+/NADP+
BH4->serotonin->Malatonin |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
B6->GABA(glutamate decarboxylase-requires B6)
Glutathione |
|
|
Term
|
Definition
Due to decr phenylalanine hydroxylase or decr tetrahydrobiopterin cofactor. Tyrosine becomes essential. incr phenylalanine leads to excess phenylketones in urine.
Findings: mental retardation, growth retardation, seizures, fair skin, eczema, musty body order.
Treatment: decr phenylalanine and incr tyrosine |
|
|
Term
|
Definition
| lack of proper dietary therapy during pregnancy. Findings in infant: microecephaly, mental retardation, growth retardation, congenital heart defects |
|
|
Term
| Alkaptonuria (ochronosis) |
|
Definition
congenital def of homogentisic acid oxidase in the degradative pathway of tyrosine. Autosomal recessive. Benign disease.
Findings: dark connective tissue, pigmented sclera, urine turns black on standing. May have debilitating arthralgias |
|
|
Term
| what are the two mech of albinism? |
|
Definition
1. Def of tyrosinase (inability to synthesize melanin from tyrosine)-autosomal recessive.
2. Defective tyrosine transporters (decr amounts of tyrosine and thus melanin) |
|
|
Term
| What are the clinical symptoms of homocystinuria |
|
Definition
excess homocysteine. Custeine becomes essential.
Findings: incr homocysteine in urine, mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward), and atherosclerosis (stroke and MI) |
|
|
Term
| what are the three forms of homocystinuria? |
|
Definition
1. cystathionine synthase def
Treatment: decr met and incr Cys, B12, and folate
2. decr affinity of cystathionine synthase for pyridoxal phosphate. treatment: incr vit B6 in diet.
3. Homocysteine methyltranferase def |
|
|
Term
|
Definition
hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in the PCT of the kidneys.
Excess cystine in urine can lead to the precipitation of cystine kidney stones (cystine staghorn calculi)
Treatment: acetazolamide to alkalinize the urine. |
|
|
Term
| Maple syrup urine disease |
|
Definition
Blocked degradation of branched amino acids (Ile, Leu, Val) due to decr alpha-ketoacid dehydrogenase (aka branched chain ketoacid dehydrogenase). causes incr alpha keotacids in the blood, especially leu.
Causes severe CNS defects, mental retardation, and death.
I Love Vermont maple syrup |
|
|
Term
|
Definition
Autosomal-recessive disorder characterized by defective neutral amino acid transporter on renal and intestinal epithelial cells.
Causes tryptophan excretion in urine and absorption from the gut. Leads to Pellagra. |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
Type I
Severe fasting hypoglycemia, incr glycogen in liver, incr blood lactate, hepatomegaly
Glucose-6-phosphatase def |
|
|
Term
|
Definition
type II
Cardiomegaly and systemic findings leading to early death
Lysosomal alpha-1,4-glucosidase def
Pompe's trashes the pump (heart, liver, and muscle). |
|
|
Term
|
Definition
Type III
Milder form of type I glycogen storage disease with normal blood lactate levels. Def debranching enzyme, gluconeogenesis is intact. |
|
|
Term
|
Definition
Type V
incr glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous excercise.
Skeletal muscle glycogen phophorylase.
McArdle's = muscle |
|
|
Term
Anderson's disease
amylopectinosis |
|
Definition
Type IV glycogen storage disease
infantile hypotonia, cirrhosis, death by 2 years.
branching enzyme def
glycogen has very few branches |
|
|
Term
|
Definition
Type VI glycogen storage disease
Mild Fasting hypoglycemia, hepatomegaly, cirrhosis.
Heptatic glycogen phophorylase (liver only) |
|
|
Term
|
Definition
Peripheral nuropathy of hands/feet, angiokertomas, cardiovascular/renal disease
alpha-galactosidase A def
Ceramide trihexoside accumulation
X-linked recessive |
|
|
Term
|
Definition
Most common lysosomal storage disease
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
beta-glucocerebrosidase def
gluocerebroside accumulation
Autosomal recessive |
|
|
Term
|
Definition
Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
sphingomyelinase def
sphingomyelin accumulation
autosomal recessive |
|
|
Term
|
Definition
Progressive Neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs Niemann-Pick)
Hexosaminidase A def
GM2 ganglioside accumulation
Autosomal recessive |
|
|
Term
| Tay-Sachs, Niemann-Pick, and some forms of Gaucher's disease are elevated in which race? |
|
Definition
|
|
Term
| What's the Citrate shuttle's role in fatty acid metabolism? |
|
Definition
| to transport Acetyl-CoA out of Mito for FA synthesis |
|
|
Term
| What is the role of Carnitine Shuttle's role in fatty acid metabolism? |
|
Definition
| transport acyl-CoA into Mito for fatty acid degradation |
|
|
Term
| Acyl-CoA dehydrogenase def |
|
Definition
incr dicarboxylic acids
decr glucose and ketones |
|
|
Term
|
Definition
inability to transport LCFAs into the mito, resulting in toxic accumulation. Causes weakness, hypotonia, and hypoketotic hypoglycemia
incr muscle triglyeride |
|
|
Term
| What are the 3 ketone bodies |
|
Definition
Acetone (we can't use it)
Acetoacetate
beta-hydroxybutyrate |
|
|
Term
| What does lecithin-cholesterol acyltransferase (LCAT) do? |
|
Definition
| esterify plasma cholesterol so they don't change cell membrane cholesterol composition. Done in blood |
|
|
Term
| What are LCAD, MCAD, and SCAD? |
|
Definition
| long, mediium, and short chain Acyl-CoA dehydrogenase. |
|
|
Term
|
Definition
| degradation of deitary TG in small intestine |
|
|
Term
|
Definition
| degradation of TG circulating in chylomicrons and VLDLs |
|
|
Term
|
Definition
| degradation of TG remaining in IDL |
|
|
Term
|
Definition
| degradation of TG stored in adipocytes |
|
|
Term
| Cholesterol ester transfer protein (CETP) |
|
Definition
| mediates transfer of cholesterol esters to other lipoprotein particles |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Binds to LDL receptor, mediates VLDL secretion |
|
|
Term
|
Definition
| co-factor for lipoprotein lipase |
|
|
Term
|
Definition
| mediates chylomicron secretion |
|
|
Term
|
Definition
| mediates extra (remnanant) uptake by liver |
|
|
Term
|
Definition
| inhibits lipoprotein lipase |
|
|
Term
|
Definition
| esterifies cholesterol, done inside cells |
|
|
Term
|
Definition
Delivers dietary TGs to peripheral tissue. Delivers cholesterol to liver in the form of chylomicro remnants, which are mostly depleted of their triacylglycerols. Secreted by intestinal epithelial cells
has B-48, A-IV, C-II, and E |
|
|
Term
|
Definition
| Delivers hepatic TGs to peripheral tissue secreted by liver. synthesis inhibited by ETOH. has B-100, C-II, and E |
|
|
Term
|
Definition
formed in the degradation of VLDL. Delivers triglyerides and cholesterol to liver, where they are degraded to LDL.
has B-100 and E |
|
|
Term
|
Definition
| Dlivers hepatic cholesterol to peripheral tissues. Formed by lipoprotein lipase modification of VLDL in the peripheral tissue. Taken up by target cells via receptor medicated endocytosis. Has B-100 |
|
|
Term
|
Definition
| Mediates reverse cholesterol transport from periphery to liver. Acts as repository for apoC and apoE (which are needed for chylomicron and VLDL metabolism). Secreted from both liver and intestine. |
|
|
Term
| type I hyperchylomicronemia |
|
Definition
| increased chylomicrons and VLDL after high carb meal, elevated blood TG and cholesterol. Lipoprotein lipase deficiency or altered apolipoprotein C-II. Causes pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no increased risk for athersclerosis). |
|
|
Term
| type IIa familial hypercholesterolema |
|
Definition
| increased LDL and elevated blood chilesterol. autosomal dominant; absent or decr'd LDL receptor. Causes accelerated atherosclerosis, tendon (Achilles) xanthomas, and corneal arcus. |
|
|
Term
| Type IV hypertriglyceridemia |
|
Definition
| incr'd VLDL and elevated blood TG, hepatic overproduction of VLDL. Causes pancreatitis |
|
|
Term
|
Definition
Hereditary inability to synthesize lipoproteins due to def in apoB-100 and apoB-48. Autosomal recessive. Symptoms appear in the first few months of life. Intestinal bipsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons.
Findings: failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness. |
|
|
Term
| what's genetic term describes the tendency for certain alleles at linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations |
|
Definition
|
|
