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30 Cards in this Set
- Front
- Back
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what enzymes are required for Phe to DOPA
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Phe hydroxylase
dihydropterin reductase tyrosine hydroxylase |
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by product of DA
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HVA
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by product of NE
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VMA
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by product of Epi
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metanephrine
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substrate and cofactor for GABA
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glutamate
B6 |
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neonate, mentally retarded, hyperactive, musty body odor
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PKU
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how to treat PKU
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increase tyrosine
replace THB |
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middle aged patient with dark connective tissue
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alkaptonuria
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enzyme def in Maple syrup urine disease
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a-ketoacid dehydroxylase
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enzyme def in PKU
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Phen hydroxylase
THB cofactor |
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what contains Phe
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aspartame
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what type of AA are disordered in PKU
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aromatic AA
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symptoms of neonate with PKU
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retardation
fair skin musty body odor |
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symptoms of mother with PKU
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retardation
microcephaly heart defects |
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defect in alkaptonuria
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homogentisic acid oxidase
cannot degrade tyrosine to fumarate |
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defect in albino
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def in tyrosinase (copper dep.)
def in tyrosine transporters lack of neural crest migration (melanocytes) |
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defect on homocystinuria
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def or dec affinity of cystathionine synthase
def in homocysteine methyltransferase |
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Rx for homocysteinuria
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dec methionine
inc cysteine, B12, B6, and Folate |
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symptoms of homocysteinuria
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retardation
marfan habitus osteoporosis atherosclerosis |
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what is pathognemonic of cystinuria
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hexagonal cysteine crystals in urine
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what is the Rx for cystinuria and why
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acetozolamide
alkalinizes the urine |
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what can turn a patients urine purple and why
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sodium nitroprusside
px has cystinuria |
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what cannot be degraded in maple syrup urine disease
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branched chain AA
Ile Leu Val |
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what is def in MSUD
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a ketoacid DH
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symtoms of MSUD
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CNS defects
mental retardation |
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what is the Rx for cystinuria and why
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acetozolamide
alkalinizes the urine |
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what can turn a patients urine purple and why
|
sodium nitroprusside
px has cystinuria |
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what cannot be degraded in maple syrup urine disease
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branched chain AA
Ile Leu Val |
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what is def in MSUD
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a ketoacid DH
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symtoms of MSUD
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CNS defects
mental retardation |
