Treatable Intellectual Disability

l.o. Citrullinemia

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
ASS1 (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
Brittle hair

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THERAPY

Dietary Protein
Restriction, Arginine Supplement, Sodium Benzoate, Phenylbutyrate

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

Treatment Effect
Prevents metabolic decompensation
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

Late-Onset Citrullinemia

is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. The late-onset form may be milder than that seen in the acute neonatal form, for unknown reasons. The episodes of hyperammonemia are similar to those seen in the acute neonatal form, but the initial neurologic findings may be more subtle because of the older age of the affected individuals; all patients develop some form of intellectual disability.
(Source: Genetic and Rare Diseases Information Center)

No information available from this source.

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