ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 98; N. variants: 4
Disease: Ketosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022638
Disease: Ketosis
Ketosis 		0.130 AlteredExpression disease BEFREE Deficiency of ACAT1 is an inherited metabolic disorder, which results from a defect in mitochondrial acetoacetyl-CoA thiolase activity and is clinically characterized with patients presenting ketoacidosis. 31228515 2019
CUI: C0022638
Disease: Ketosis
Ketosis 		0.130 GeneticVariation disease BEFREE It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. 28689740 2017
CUI: C0022638
Disease: Ketosis
Ketosis 		0.130 Biomarker disease BEFREE If beta-KT deficiency is diagnosed early and treated by fasting avoidance and modest protein restriction, ketoacidosis episodes can be prevented and the prognosis is excellent. 16950638 2006