|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
|
11486912 |
2001 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
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.
|
1902818 |
1991 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
2393404 |
1990 |
|
rs77931234
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency.
|
15466077 |
2004 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
|
1363805 |
1992 |
|
rs77931234
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
One variant of the MCAD gene, G985A, a point mutation causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD protein, has been found in 90% of the alleles in MCADD patients identified retrospectively.
|
11263545 |
2001 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
|
9882619 |
1999 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
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.
|
1684086 |
1991 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Frequency of the G985 MCAD mutation in the general population.
|
1671131 |
1991 |
|
rs77931234
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |
|
rs77931234
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In mass-screened newborn populations, the 985A>G (K329E) mutation accounts for 54-90% of disease alleles, with homozygotes representing about 47-80% of MCAD deficiency cases.
|
16763904 |
2007 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
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.
|
2394825 |
1990 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
High 985A-->G carrier frequencies in populations of European descent and the usual avoidance of recurrent disease episodes by patients diagnosed with MCAD deficiency who comply with a simple dietary treatment suggest that MCAD deficiency is a candidate in prospective screening of newborns.
|
11349232 |
2001 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.985A>G, being the most common in patients of northwestern European descent.
|
20567907 |
2010 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Virtually all patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are homozygous or compound heterozygous for the 985A > G mutation, which limits the study of a possible genotype/phenotype correlation.
|
15171999 |
2004 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results are consistent both with a founder effect as the cause of the high prevalence of a single (A985G) mutation in MCAD deficiency and with its association with a particular haplotype for these intragenic RFLPs.
|
8099254 |
1993 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular and functional characterisation of mild MCAD deficiency.
|
11409868 |
2001 |
|
rs77931234
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |