ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 98; N. variants: 4
Disease: Inborn Errors of Metabolism ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.020 Biomarker group BEFREE Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism affecting isoleucine catabolism and ketone body utilization. 20156697 2010
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.020 Biomarker group BEFREE Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects the catabolism of isoleucine and ketone bodies. 15128923 2004