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Definition

An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.

Acronym

HMGCLD

Synonyms

HL deficiency
HMG-CoA lyase deficiency
HMGCL deficiency
Hydroxymethylglutaric aciduria
Hydroxymethylglutaricaciduria