Treatable Intellectual Disability

l.o. Argininosuccinic Aciduria

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
ASL (AR)

Diagnostic Test
Plasma Amino Acids

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SIGNS & SYMPTOMS

Neurological
Encephalopathic crisis, psychosis/depression, behavioral disturbances, white matter abnormalities (MRIscan)

Non-Neurological
Elevated transaminases and hepatic fibrosis, brittle hair

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THERAPY

Treatment
Dietary Protein Restriction, Arginine Supplement, Sodium Benzoate, Phenylbutyrate

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

Treatment effect
Prevents metabolic decompensation; stabilizes clinical deterioration; improves behaviour, seizure control, neurological & systemic manifestations

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THERAPY

Treatment
Liver Transplantation

Level of Evidence /
Clinical Care
4 / Individual Basis

Treatment Effect
Prevents metabolic decompensation

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Argininosuccinic Aciduria

Late-Onset Argininosuccinic Aciduria

is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle. This leads to hyperammonemia and arginine deficiency. Late-onset cases present with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders during childhood and adolescent (even adult) age. Significant hepatomegaly and trichorrhexix nodosa are common observations.Early onset occurs soon after birth, with severe hyperammonemic coma that often proves to be fatal, or during childhood, with hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. (Source: Orphanet)

No information available from this source.

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