Treatable Intellectual Disability

mHMG-CoA Synthase Deficiency

DIAGNOSIS

Gene
HMGCS2 (AR)

Diagnostic Test
Urine Organic Acids

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SIGNS & SYMPTOMS

Neurological
Encephalopathic crisis, dystonia, Basal ganglia lesions (MRIscan)

Non-Neurological
- - -

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THERAPY

Treatment
Avoid Fasting, Sick Day Management, +/- Dietary Precursor Restriction

Level of Evidence
5

Clinical Practice
Standard of Care

Treatment Effect
Prevents metabolic decompensation



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mHMG-CoA Synthase Deficiency

mHMG-CoA Synthase Deficiency

HMG-CoA synthase deficiency affects the first step of hepatic ketogenesis. Patients typically present during infancy with hypoketotic hypoglycemic coma. Acute crises occur during prolonged fasting, often triggered by concomitant infectious illness. sequelae may occur due to prolonged hypoketotic hypoglycemia.

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