Gene: ACADM

Alternate names for this Gene: ACAD1|MCAD|MCADH

Gene Summary: This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.1

Description of this Gene: acyl-CoA dehydrogenase medium chain

Type of Gene: protein-coding

Gene: DLSTP1

Alternate names for this Gene:

Gene Summary:

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Description of this Gene:

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rs370523609 in ACADM;DLSTP1 gene and Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID 22630369 2012 Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

PMID 26223887 2015 Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.

PMID 20434380 2010 Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

PMID 27477829 2016 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

PMID 27308838 2017 Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

PMID 16291504 2006 Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

PMID 15832312 2005 Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

PMID 19224950 2009 Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

PMID 23028790 2012 Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

PMID 24718418 2014 The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.

PMID 24966162 2014 Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.

PMID 11673361 2001 Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

PMID 19780764 2009 Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].