Term
| A baby presents in the neonatal unit with failure to thrive. Upon more testing you figure out that they have increased orotic acid in their urine and megaloblastic anemia. How is this disease inherited? |
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Definition
| autosomal recessive - they have orotic aciduria |
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Term
| How can you treat orotic aciduria? |
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Definition
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Term
| A child presents to your clinic with retarded mental development, self-mutilation, aggression, hyperuricemia, gout and choreoathetosis... what does he have? |
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Definition
| Lesch-Nyhan Syndrome - defective purine salvage pathways (absence of HGPRT) |
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Term
| What drugs inhibit DNA gyrase? |
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Definition
| flouroquinolones (ciprofloxacin, levofloxacin, etc) |
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Term
| What DNA repair mechanism is mutated in xeroderma pigmentosum? |
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Definition
| nucleotide excision repair is messed up leading to dry skin with melanoma and other cancers (can't repair thymidine dimers) |
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Term
| What kind of DNA repair is mutated in hereditary nonpolyposis colorectal cancer? |
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Definition
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Term
| What substance is found in death cap mushrooms and what does it do? |
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Definition
| alpha-amantin, inhibits RNA polymerase II (inhibiting mRNA => bad.) |
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Term
| Which kinds of RNA polymerase make what? |
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Definition
| RNA pol 1 - rRNA, RNA pol 2 - mRNA, RNA pol 3 - tRNA |
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Term
| What do patients with lupus make antibodies to that is involved in splicing mRNA? |
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Definition
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Term
| What mechanism of protein production allows for disorders such as beta-thallasemia to exist? (hint - it has 4 different forms because of...) |
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Definition
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Term
| What is the MOA of tetracycline antibiotics? |
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Definition
| bind 30s subunit of ribosome, preventing attachment of tRNA |
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Term
| What is the acronym for protein synthesis? |
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Definition
| going APE-shit - A site holds amino-acyl RNA, P site holds growing polypeptide, E site holds empty tRNA as it exits. That's all. |
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Term
| What syndrome involves a dynein arm deffect that leads to male and female infertility, sinus infections, and bronchiectasis? |
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Definition
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Term
| On initial exam a baby is found to already have multiple fractures and blue sclera. He seems to not hear anything and has abnormal teeth. What does he have? How is this usually inherited? |
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Definition
| Osteogenesis Imperfecta, autosomal dominant |
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Term
| This disorder is associated with nephritis and hearing loss due to problems with type IV collagen... |
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Definition
| Alport's syndrome (can also have visual disturbances) |
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Term
| Southern and Northern Blots have DNA probes to look at certain ______ and _______ samples respectively, Western blot involves... |
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Definition
| DNA and RNA, antibody annealing to a suspected protein |
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Term
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Definition
| dwarfism with head and trunk normal size, cell signaling defect of fibroblast growth factor 3, aut dom |
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Term
| What is Autosomal dom polycystic kidney disease? what's it associated with? |
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Definition
| bilateral enlargement of kidneys due to large cysts, 90% of cases due to mutations in APKD1, berry aneurysms are associated |
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Term
| What is familial hypercholesterolemia? |
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Definition
| defective or absent LDL receptor, heterozygotes chol is about 300, homozygotes - 700+, results in atherosclerotic disease and tendon xanthomas |
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Term
| What is curative for hereditary spherocytosis? |
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Definition
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Term
| What does Huntington's disease result from? |
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Definition
| problem with gene on chrom 4 (trinucleotide repeats) leads to decreased levels of GABA and ACh in the brain (leads to depression, dementia, choreiform movements, etc) |
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Term
| This disease results in cafe-au-lait spots, neural tumors, Lisch nodules and skeletal disorders while ____________ results in bilateral acoustic schwannomas and juvenile cataracts...? |
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Definition
| neurofibromatosis type I, neurofibromatosis type II |
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Term
| What is the most common problem with the CFTR gene in CF? Where is CFTR located? |
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Definition
| Phe 508 deletion, chromosome 7 |
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Term
| What drug is used to treat CF and why? |
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Definition
| N-acetylcysteine because it loosens mucous plugs by cleaving disulfide bones within mucous glycoproteins |
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Term
| What is Duchenne's muscular dystrophy due to? |
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Definition
| decrease in dystrophin, leads to weakness beginning in pelvic girdle, fibrofatty replacement of muscle (hypertrophied calves) |
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Term
| What is the difference between duchenne's and becker's muscular dystrophy? |
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Definition
| becker's is just a mutation in dystrophin, not a deletion, and is therefore less severe, presenting in adolescence/adulthood |
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Term
| What is the acronym for Fragile X Syndrome? |
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Definition
| Fragile X - Xtra large testis, jaw, ears |
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Term
| the trinucleotide repeat expansion diseases are... |
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Definition
| huntington's (CAG), myotonic dystrophy (CTG), Fragile X syndrome (CGG), and freidrich's ataxia (GAA) |
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Term
| What are the symptoms of Edward Syndrome? |
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Definition
| trisomy 18 --> rocker bottom feet, micrognathia (small jaw), clenched hands, prominent occiput, CHD... |
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Term
| What substances are electron transport inhibitors (bad)? |
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Definition
| Rotenone, CN-, antimycin A, and CO all inhibit electron transport, causing a decreased proton gradient and decreased ATP synth |
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Term
| What drug is an ATPase inhibitor? (stops the electron transport chain...) |
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Definition
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Term
| What substances can uncouple the electron transport chain? |
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Definition
| 2,4-DNP, aspirin (overdose causes fever) and thermogenin in brown fat |
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Term
| What does pyruvate carboxylase do? |
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Definition
| changes pyruvate to oxaloacetate and requires biotin and ATP |
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Term
| What does PEP carboxylase require? (changes oxaloacetate to PEP) |
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Definition
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Term
| A patient comes in with tremor, slurring of speech, somnolence, vomiting and cerebral edema. You decide to limit protein in their diet and give phenylbutyrate because you think they have... which results in... |
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Definition
| hyper ammonemia, excress NH4 depletes alpha ketoglutarate, leading to inhibition of the TCA cycle |
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Term
| What are the symptoms of homocystinuria? |
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Definition
| increased homocysteine in urine, mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (down and in), atherosclerosis |
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Term
| What results in cystinuria? |
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Definition
| defect in amino acid transport in PCT of the kidneys, leads to cysteine kidney stones, treat with acetazolamide to alkalinize the urine |
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Term
| What results in severe CNS defects, mental retardation, death and urine that smells like maple syrup? |
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Definition
| decreased degradation of branched chain amino acids ILV |
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Term
| How do glucagon and insulin work on a cellular level in muscle? |
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Definition
glucagon activates AC to increase cAMP which actives PKA which phosphorylates glycogen phosphorylase kinase
insulin causes dimerization of tyr kin, which dephosphorylates glycogen phosphorylase --> less breakdown of glycogen
also remember that increased muscle calcium --> activates phosphorylase kinase for more glycogen breakdown to go with muslce movement |
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Term
| What disease results in severe fasting hypoglycemia, greatly increased glycogen in the liver, increased blood lactate, and hepatomegaly? |
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Definition
| Von Gierke's Disease - Glucose-6-phosphatase def |
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Term
| What glycogen storage disease results in cardiomegaly and systemic findings resulting in early death? |
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Definition
| Pomp's disease - def of lysosomal alpha-1,4-glucosidase (acid maltase) |
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Term
| What is the difference between Von Gierke's and Cori's disease? |
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Definition
| Cori's is a milder form of Von Gierke's that doesn't increase blood lactate, debranching enzyme is def |
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Term
| What does McArdle's disease result in? |
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Definition
| increased glycogen in muscle, but can't break it down leading to painful muscle cramps, myoglobinuria with strenuous exercise, skeletal muscle glycogen phosphorylase is def. |
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Term
| What lysosomal storage disease results in peripheral neuropathy of hands and feet and cardiovascular/renal disease? |
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Definition
| Fabry's disease - alpha galactosidase A def leading to build up of ceramide trihexoside |
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Term
| What lysosomal storage disease results in hepatosplenomegaly, aseptic necrosis of the femur, bone crisis, and macrophages that look like crumpled paper? |
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Definition
| Gaucher's disease - beta glucocerebrosidase def, glucocerebroside accumulates |
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Term
| Niemann-Pick disease (AR) results in what symptoms due to a sphingomyelinase deficiency? |
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Definition
| progressive neurodegenerative, hepatosplenomegaly, cherry red spot on macula, foam cells... |
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Term
| What disease presents like Niemann-Pick but without the hepatosplenomegaly? |
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Definition
| Tay-Sachs Disease, hexosaminidase A deficiency causes build up of GM ganglioside |
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Term
| What lysosomal storage disease results in peripheral neuropathy, developmental delay, optic atrophy, and globoid cells? |
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Definition
| Krabbe's disease - galactocerebrosidase def results in accumulation of galactocerebroside |
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Term
| What symptoms does Metachromatic leukodystrophy result in ? |
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Definition
| central and peripheral demyelination with ataxia, dementia due to arylsulfatase A def, cerebroside sulfate builds up |
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Term
| What syndrome results in gargoylysm, developmental delay, airway obstruction, corneal clouding, and hepatosplenomegaly? |
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Definition
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|
Term
| what enzyme is deficient in Hurler's syndrome? what builds up? |
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Definition
| alpha-L-iduronidase; heparin sulfate and dermatan sulfate |
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