Mild hyperphenylalaninemia

Orpha code: 79651OMIM code:

Definition

A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.

Disease data
Classification

Clinical subtype

Synonyms
Mild HPA
Łagodna HPA
mHPA
Non-PKU HPA
Non-PKU HPA
mHPA
ORPHA code
79651
OMIM code
-
ICD10 code
E70.1
ICD11 code
-

No additional description.

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