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11 Cards in this Set

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  • Back
which amino acid is deficient in phenylketonuria
tyrosine - cannot metabolize from phenylalanine
Defects in which 3 things can lead to hyperphenylalaninemia
1. phneylalanine hydroxylase
2. synthesis of BH4
3. dihydropteridine reductase (generates BH4 from BH2)
deficiency in what leads to decreased synthesis of catecholamines and serotonin along with hyperphenylalaninemia
BH4 or didydropteridine reductase
3 classic characteristics of PKU
1. Elevated phenylalanine results in musty odor
2. mental retardation
3. hypopigmentation
why do children with PKU have hypopigmentation
lack of tyrosine to form melanin via tyrosinase
do infants with PKU have abnormal blood levels of phenylalanine at birth
No, usually 24-48 hours later because maternal liver cleared excess phenylalanine
essential amino acid in patients with PKU
tyrosine
deficiency in branched-chain a-keto acid dehydrogenase
maple syrup urine disease
what accumulates in the blood causing toxic effects in patients with maple syrup urine disease
a-keto acids
which 3 enzymes require BH4 as a cofactor
phenylalanine hydroxylase
tyrosine hydroxylase
tryptophan hydroxylase
cofactors required for branched-chain a-ketoacid dehydrogenase
thiamine
lipoamide
CoA
NAD