Treatable Intellectual Disability

l.o. NAGS Deficiency

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
NAGS (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. NAGS Deficiency

Late-Onset NAGS Deficiency

N-acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder leading to hyperammonemia. Onset occurs at any age, but neonatal presentation appears to be the most frequent. The clinical manifestations are variable but common features include vomiting, hyperactivity or lethargy, diarrhea, poor feeding, seizures, hypotonia, delayed psychomotor development and respiratory distress. The hyperammonemia is often severe and may lead to hyperammonemic coma. (Source: Orphanet)

No information available from this source.

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