Treatable Intellectual Disability

MELAS

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
MTTL1, MTTQ, MTTH, MTTK, MTTC, MTTS1, MTND1, MTND5, MTND6, MTTS2 (MT)

Diagnostic Test
Mitochondrial DNA Mutation Testing

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SIGNS & SYMPTOMS

Neurological
Dementia, encephalopathic crisis, psychosis/depression, behavioral disturbances,stroke, vision loss, white matter abnormalities & cerebellar atrophy (MRIscan)

Non-Neurological
- - -

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THERAPY

Treatment
Arginine Supplements

Level of Evidence
4-5

Clinical Practice
Standard of Care

Treatment Effect
Prevents metabolic decompensation;
stabilizes clinical deterioration;
improves seizure control & neurological manifestations

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MELAS

MELAS (Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is a progressive neurodegenerative disorder characterized by acute neurological episodes resembling strokes associated with hyperlactatemia and mitochondrial myopathy. The exact prevalence of the disease is unknown. Patients usually present during childhood or early adulthood with acute crises, which may be triggered by infection or physical exercise. (Source: Orphanet)

No information available from this source.

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