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Dictionary » Hyperphenylalaninemia


Introduction: Hyperphenylalaninemia

Description of Hyperphenylalaninemia

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.
Source: CRISP

Hyperphenylalaninemia: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hyperphenylalaninemia:

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Broader terms for Hyperphenylalaninemia

Source - CRISP

The term Hyperphenylalaninemia can be used for:

Source: CRISP

Other terms that may be related to Hyperphenylalaninemia:

Source: CRISP

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