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Definition

A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly.

Acronym

HMGCS2D

Synonyms

HMG-CoA synthase deficiency
HMGCS deficiency
HMGCS2 deficiency
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
Mitochondrial HMG-CoA synthase deficiency