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24 Cards in this Set
- Front
- Back
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Xeroderma pigmentosum |
NER (nucleotide excision repair) |
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HNPCC (Lynch Syndrome) |
Mismatch repair |
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BRCA1 BRCA2 |
Homologous Recombination |
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Zellweger's |
M6P defect to peroxisome targeting |
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OI |
defect in Collagen a1 |
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Ehlers-Danlos |
stretchy skin; defect in cross-linking |
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scurvy |
cant hydroxylate proline and lysine because missing vit C |
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Lesch-Nyhan |
deficiency of HGPRT in purine salvage. cant salvage H and G to IMP self-mutilation, hyperuricemia |
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Gout |
when urate crystals build up in toes. treatment with allopurinol+febuxistat (XO inhibitor) or urocosurics (probenecid) |
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folate deficiency |
cant renegenerate THF from DHF, cant do dUMP to dTMP. |
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X-linked G6PD |
deficiency of G6PD. cant regenerate NADPH needed for glutathione production, issues with red blood cells |
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HFI (hereditary fructose intolerance) |
aldolase B deficiency |
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classic galactosemia |
GALT |
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MSUD |
dont have BCKAD |
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alcaptonuria |
homogentisate oxidase. used to clear tyr |
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X-linked ALD |
transport for VLCFA into peroxisome is defective |
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Refsum |
a-hydroxylase of alpha-oxidation is deficient |
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MCAD deficiency |
medium chain acyl dehydogenase deficiency hypoketotic hypoglycemia |
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hurlers |
iduronidase |
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hunters |
sulfate iduronidase |
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abetalipoprotenemia |
mutation in MTP -- cant load B48 or B100 onto CM or VLDL. CETP is what transfers the thing |
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Familial hypercholesterolemia |
LDLR doesnt work |
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methemeglobinuria |
Fe3+ instead of 2+ |
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dysbetalipoprotenemia |
abnormality in apoE so cant clear IDL and CMR from blood (E2/E2) |
