×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
15832312
2005
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
20036593
2010
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.
7730333
1995
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
19649258
2009
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
18241067
2008
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
9158144
1997
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).
23430840
2011
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.
7730333
1995
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
24294134
2013
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
16763904
2007
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
21083904
2010
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
20434380
2010
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
27477829
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
15479234
2004
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
As in other metabolic disorders, the distinction between "normal" and "disease" in MCAD deficiency is blurring into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing.
11409868
2001
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
21483992
2011
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
28581210
2017
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
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
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
7652482
1995
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
8102510
1993
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Protein sequences encode safeguards against aggregation.
19156839
2009
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
26947917
2016
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
7929823
1994
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
22975760
2013
×
Entrez Id:
34
Gene Symbol:
ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000
CausalMutation
CLINVAR
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.
7904584
1994