HMG-CoA Synthase-2 Deficiency (HMGCS2)

HMG-CoA synthase-2 deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene HMGCS2. Affected individuals manifest symptoms including severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, which are usually precipitated by an infection or a prolonged period of fasting. The life expectancy of this disorder is unknown.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):