3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

3-Hydroxy-3-methylglutaryl-CoA lyase (or HMG-CoA lyase) is an enzyme that in human is encoded by the HMGCL gene located on chromosome 1. It is a key enzyme in ketogenesis (ketone body formation). [Source: Wikipedia ]

Synonyms
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
May Cause
Acute pancreatitis
Cardiomyopathy
Encephalopathy
Leukodystrophy / leukoencephalopathy
Macrocephaly
Pancreatitis in a child
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria