Variant: rs200724875 

    present in Gene: DLSTP1;ACADM
    present in Chromosome: 1
    Position on Chromosome: 75745823
    Alleles of this Variant: G/A;T

rs200724875 in DLSTP1;ACADM gene and Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID 1671131 1991 Frequency of the G985 MCAD mutation in the general population.

PMID 9882619 1999 Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

PMID 18450854 2008 Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

PMID 11409868 2001 Molecular and functional characterisation of mild MCAD deficiency.

PMID 19156839 2009 Protein sequences encode safeguards against aggregation.

PMID 9158144 1997 The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

PMID 11349232 2001 Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

PMID 2393404 1990 Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

PMID 10767181 2000 Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

PMID 7603790 1995 Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

PMID 1902818 1991 Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

PMID 1363805 1992 Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

PMID 20036593 2010 Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

PMID 8198141 1994 Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

PMID 27943070 2017 Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

PMID 27856190 2016 Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

PMID 2251268 1990 Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

PMID 1684086 1991 Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

PMID 2394825 1990 Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

PMID 11486912 2001 Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

PMID 7929823 1994 A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

PMID 29519241 2018 Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

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

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

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