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Old 07-27-2014
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Default screening for phenylketonuria

During normal screening for phenylketonuria, a male newborn has a serum phenylalanine concentration of 35 mg/dL (greater than 20 mg/dL is considered a positive test). Signs of tyrosine deficiency also are apparent. Enzymatic analysis using cultured fibroblasts, obtained after circumcision, shows normal activity of phenylalanine hydroxylase. A possible explanation for these findings is a deficiency in function of which of the following coenzymes?

(A) Adenosylcobalamin
(B) Biopterin
(C) Dihydroquinone
(D) Pyridoxal phosphate
(E) Tetrahydrofolic acid
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Old 07-27-2014
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B
TH4 tetrahydrobiopterin
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Old 07-27-2014
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B- BIOPTERIN def. is malignant phenylketouria ( THB to DHB)
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Old 07-27-2014
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BB
Biopterin, Malignant PKU

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