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

N. diseases: 75; N. variants: 30
Disease: HEPATIC LIPASE DEFICIENCY (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.040 Biomarker disease BEFREE 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a neurometabolic disorder characterized by predominant accumulation of 3-hydroxy-3-methylglutaric acid (HMG) in tissues and biological fluids. 31721046 2020
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.040 GeneticVariation disease BEFREE Here, we report on novel mutations identified in the HMGCL gene in 2 Taiwanese patients with HL deficiency. 19036343 2009
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.040 Biomarker disease BEFREE 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism, which generally appears during the first year of life. 17692550 2007
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.040 GeneticVariation disease BEFREE The relatively high frequency of the "common" HMGCL Portuguese mutation makes useful the development of a rapid and specific molecular confirmation of new cases with HL deficiency in our country. 15308132 2004