rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
BEFREE |
Children with MCAD deficiency had normal growth. p.Lys329Glu homozygotes had higher NBS C8-carnitine (23.4 ± 19.6 vs. 6.6 ± 3.0 μmol/L) and lifetime plasma C8-carnitine levels (6.2 ± 5 vs. 3.6 ± 1.9 μmol/L) compared to patients with at least one other pathogenic variant (p < .001 for both) and higher transaminases compared to compound heterozygotes (ALT 41.9 ± 6.2 vs. 31.5 ± 3.7 U/L, AST 63.9 ± 5.8 vs. 45.7 ± 1.8 U/L, p < .05 for both).
|
31836396 |
2020 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
|
25763512 |
2015 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
|
26223887 |
2015 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
|
26215884 |
2015 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.
|
24718418 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
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 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
BEFREE |
The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene.
|
24799540 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene.
|
24799540 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
|
24966162 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
24623196 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
|
25333063 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence.
|
24998633 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
BEFREE |
About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele).
|
23829193 |
2014 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
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 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
|
23842438 |
2013 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
|
23509891 |
2013 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
BEFREE |
Therefore, this variant along with the c.985A>G allele could constitute a panel for both prenatal and neonatal MCADD screening in the Greek population.
|
22683754 |
2012 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
|
23028790 |
2012 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
|
22630369 |
2012 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
BEFREE |
We suggest that in MCADD (1) a newborn screening C8 level of 6micromol/L or greater represents particular risk of sudden death; (2) that MCAD genotypes other than homozygosity for the c.985A>G mutation are also associated with sudden death; (3) that vomiting is a frequent symptom preceding sudden death; and (4) social support and medical follow-up of these families are crucial in reducing the occurrence of sudden death.
|
20580581 |
2010 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
BEFREE |
Associated with heterozygosity for c.985A>G mutation, this mutation is responsible for a mild MCADD phenotype along with a clinical story corroborating the emerging literature view that patients with genotypes representing mild MCADD (high residual enzyme activity and low urinary levels of glycine conjugates), similar to some of the mild MCADDs detected by MS/MS newborn screening, may be at risk for disease presentation.
|
20923556 |
2010 |
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
|
20036593 |
2010 |