3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Definition:
3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures.
Biomedical Dictionary
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