Treatable Intellectual Disability

Citrullinemia Type II

DIAGNOSIS

Gene
SLC25A13

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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Citrullinemia Type II

Symptoms of Citrullinemia II (caused by a deficiency of a mitochondrial shuttle function), usually appear during adulthood and mainly affect the nervous system; some patients previously experienced neonatal intrahepatic cholestatic icterus. Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with type II citrullinemia. Intellectual disability is one of the main sequelae.
(Source: Genetic and Rare Diseases Information Center)

No information available from this source.

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