Treatable Intellectual Disability

GAMT Deficiency

DIAGNOSIS

Gene
GAMT (AR)

Diagnostic Test
Urine Creatine Metabolites

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SIGNS & SYMPTOMS

Neurological
Behavioral disturbances, epilepsy, dystonia, Basal ganglia lesions (MRIscan)

Non-Neurological
- - -

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THERAPY

Treatment
Arginine restriction,Creatine & Ornithine Supplements

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves behaviour, seizure control & neurological manifestations



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GAMT Deficiency

Guanidinoacetate methyltransferase (GAMT, EC 2.1.1.2) deficiency is an inborn error of creatine synthesis. So far, it has been described in 9 patients in the literature. The clinical phenotype is variable including a spectrum of neurological involvement from progressive extrapyramidal movement disorder and severe muscular hypotonia, to epilepsy and mental retardation. (Source: Orphanet)

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