Treatable Intellectual Disability

Tyrosinemia Type II

DIAGNOSIS

Gene
TAT (AR)

Diagnostic Test
Plasma Amino Acids, Urine Organic Acids

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SIGNS & SYMPTOMS

Neurological
- - -

Non-Neurological
Ulcerative corneal lesions, photosensitivity, plaques, ulcers

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THERAPY

Treatment
Dietary Phenylalanine & Tyrosine Restriction

Level of Evidence
4-5

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves systemic manifestations



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Tyrosinemia Type II

Tyrosinemia Type II

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in most cases, intellectual deficit. The disease appears to be more common in Arab and Mediterranean populations. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. (Source: Orphanet)

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