| hyperphenylalaninemia |
1. 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 (q.v.), but two benign forms also occur (see transient h. and persistent h.). Rarely, the defect is one of tetrahydrobiopterin metabolism; see malignant h. 2. excess of phenylalanine in the blood.
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