ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 Biomarker disease BEFREE To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological parameters of patients with MCAD deficiency born between 2007 and 2015. 31012112 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease BEFREE Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening. 29350094 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 29519241 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 28581210 2017
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838 2017
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. 27943070 2017
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease BEFREE Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. 26215884 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease BEFREE We report on two siblings with mild MCAD deficiency associated with a novel splice site mutation in the ACADM gene. 26223887 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. 25503862 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. 25763512 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887 2015
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation disease CLINVAR Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. 23574375 2014
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease BEFREE Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism. 24966162 2014
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation disease CLINVAR Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. 24623196 2014