Treatable Intellectual Disability

Phenylketonuria

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
PAH (AR)

Diagnostic Test
Plasma Amino Acids

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SIGNS & SYMPTOMS

Neurological
Depression/anxiety, behavioral disturbances, epilepsy

Non-Neurological
Urine musty odor

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THERAPY

Treatment
Dietary Phenylalanine Restriction (+ / - Neutral Amino Acid Supplements)

Level of Evidence /
Clinical Care
2a / Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves behaviour & neurological manifestations

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THERAPY

Treatment
Kuvan

Level of Evidence /
Clinical Care
4 / Individual Basis

Treatment Effect
Prevents metabolic decompensation



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Phenylketonuria

is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives. (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.