Treatable Intellectual Disability

l.o. CPS Deficiency

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
CPS1 (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
- - -

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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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l.o. CPS Deficiency

Late-Onset CPS Deficiency

is a disease strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis. Onset usually occurs during infancy with hyperammonemic coma, which may be associated with ketoacidosis. More rarely, patients present during childhood with recurrent hyperammonemic coma or chronic vomiting, a strong dislike of proteins, hypotonia, intellectual deficit, and growth failure. (Source: Orphanet)

No information available from this source.

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