hyperphenylalaninemia
[any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism. ( CSP )]
UMLS (CSP) C0751435- Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
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