ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Disease: Blood spots ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732730
Disease: Blood spots
Blood spots 		0.020 GeneticVariation disease BEFREE To determine the potential risk of metabolic decompensation in newborns with elevations of diagnostic metabolites (octanoylcarnitine>0.3, but <1 micromol/L), we investigated the relationship between octanoylcarnitine (C8) concentration in neonatal blood spots and the 985A>G MCAD genotype. 14970748 2004
CUI: C4732730
Disease: Blood spots
Blood spots 		0.020 Biomarker disease BEFREE Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. 1769118 1991