Treatable Intellectual Disability

HMG-CoA Lyase Deficiency

DIAGNOSIS

Gene
HMGCL (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
Protein Restriction, Avoid Fasting, Sick Day Management,

Level of Evidence
5

Clinical Practice
Standard of Care

Treatment Effect
Prevents metabolic decompensation



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HMG-CoA Lyase Deficiency

3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with non-ketotic hypoglycemia triggered by periods of fasting or infections. Neurological sequelae include epilepsy, intellectual disability, focal neurological signs and visual loss. MRI findings include basal ganglia lesions, and diffuse and focal white matter changes. (Source: Orphanet)

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