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39 Cards in this Set
- Front
- Back
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alkaptonuria is deficiency of
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homogentisic acid oxidase in degradative pathway of tyrosine
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alkaptonuria inheritance
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AR
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findings alkaptonuria
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dark connective tissue
pigmented sclera urine turns black ?debilitating arthralgia |
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albinism deficiency
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tyrosinase (no tyrosine --> melanine. AR) or tyrosine transporters
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albinism can result for lack of migration of
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neural crest cells.
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homocystinuria inheritance
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autosomal recessive
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in homocystinuria, ___ becomes essential
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cysteine
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3 forms of homocystinuria
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cystathionnine synthase deficiency
decreased affinity of cystathionine synthase for pyridoxal phosphate homocysteine methyltransferase deficiency |
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tx for cystathionine synthase deficiency
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decrease met and increase cys, increase b12 and folate
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tx for decreased affinity of cystathionine synthase
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increase vitamin b6
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cystinuria inheritane
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AR
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cystinuria tx
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acetazolamine to alkalinize the urine
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cystinuria cause
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hereditary defect of renal tubular AA transporter for cysteine, ornithine, lysine, and arginine in PCT
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excess cystine --->
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cystine kidney stones (cystine staghorn calculi)
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deficiency in maple syrup urine disease
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alpha-ketoacid dehydrogenase
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fabry's dz deficiency and accumulated substrate
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no alpha-galactosidase a.
too much ceramide trihexoside XR |
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gaucher's dz def and substrate
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no beta-glucocerebrosidase. too much glucocerebroside
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neimann-pick dz def
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sphingomyelinase
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neiman pick dz accumulation
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sphingomyelin
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taysachs dz def
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hexosaminidase A
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tay sachs accumulation
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gm2 gangliosde
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krabbe's dz def
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galactocerebrosidase
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krabbe's dz accumulation
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galactocerebroside
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metachromati leukodystrophy deficiency
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arylsulfatase A
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metachromatic leukodystrophy accumulation
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cerebroside sulfatase
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hurler's syndrome def
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alpha-l-iduroniase
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hurler's syndrome accumulation
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heparan sulfate, dermatan sulfate
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hunter's syndrome def
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iduronate sulfatase
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hunter's syndrome accumulation
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heparan sulfate, dermatan sulfate
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tx for hyperammonemia
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benzoate or phenylbutyrate
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otc deficiency inheritance
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x-linked recessive
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otc def cannot eliminate
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ammonia
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otc def: ________ is converted to _______
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excess carbamoyl phosphate converted to orotic acid
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basic amino acids
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arg, lys, his.
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histones contain which aa
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arginine and lysine
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acidic aa
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asp and glu
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glucogenic essential aa
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met, val, arg, his
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glucogenic/ketogenic essential aa
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ile, phe, thr, trp
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ketogenic essential aa
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leu, lys
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