HMGCL, 3-hydroxy-3-methylglutaryl-CoA lyase, 3155

N. diseases: 75; N. variants: 30
Disease: Hypoglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.110 Biomarker disease BEFREE Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is an autosomal recessive disorder affecting the leucine catabolic pathway and ketone body synthesis, and is clinically characterized by metabolic crises with hypoketotic hypoglycemia, metabolic acidosis and hyperammonemia. 25872961 2015
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.110 Biomarker disease HPO