Treatable Intellectual Disability

l.o. Argininemia

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
ARG1 (AR)

Diagnostic Test
Plasma Amino Acids

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SIGNS & SYMPTOMS

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

Non-Neurological
Cholestatic icterus

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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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lo Argininemia

Late-Onset Argininemia

is a urea cycle disorder, in which untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily. (Source: GeneReviews)

No information available from this source.

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