ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Disease: Fatty acid oxidation disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456270
Disease: Fatty acid oxidation disorder
Fatty acid oxidation disorder 		0.030 Biomarker disease BEFREE Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency is a fatty acid oxidation disorder that can have variable clinical severity. 31836396 2020
CUI: C1456270
Disease: Fatty acid oxidation disorder
Fatty acid oxidation disorder 		0.030 Biomarker disease BEFREE Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid oxidation disorder included on newborn screening (NBS) panels in many regions that have expanded to using tandem mass spectrometry for acylcarnitine screening. 25454677 2014
CUI: C1456270
Disease: Fatty acid oxidation disorder
Fatty acid oxidation disorder 		0.030 Biomarker disease BEFREE Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. 20434380 2010