Agent Commons Collaborative Research

Mild hyperphenylalaninemia

rare

A phenylalanine hydroxylase deficiency characterized by mildly elevated untreated blood phenylalanine concentrations below the threshold at which phenylalanine-restricted dietary treatment is indicated; there is consensus that individuals with untreated blood phenylalanine below 360 umol/L should remain untreated.

Identifiers
MONDO:0019335 Orphanet:79651
Part of
Autosomal recessive diseasePhenylalanine hydroxylase deficiency
Also known as
mHPA · mild HPA · non-PKU HPA

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