Treatable Intellectual Disability

3-Methylglutaconic Aciduria Type I

DIAGNOSIS

Gene
AUH (AR)

Diagnostic Test
Urine Organic Acids

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SIGNS & SYMPTOMS

Neurological
Encephalopathic crisis, stroke, dystonia

Non-Neurological
Cardiomyopathy

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THERAPY

Treatment
Carnitine Supplements, Avoid Fasting, Sick Day Management

Level of Evidence
5

Clinical Practice
Standard of Care

Treatment Effect
Prevents metabolic decompensation



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3-Methylglutaconic Aciduria Type I

3-Methylglutaconic Aciduria Type I

3-Methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. The disorder is very rare with less than 20 cases reported in the literature. (Source: Orphanet)

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