|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Greater availability of MCAD mutation analysis is likely to unravel the molecular basis of MCAD deficiency in the Asian population that might differ from Caucasians.
|
15915086 |
2005 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
We performed immunoblot analysis of fibroblast MCAD from a total of 34 patients with MCAD deficiency, including 31 homozygous for the A985-G mutation, using a rabbit anti-rat MCAD antibody that cross-reacted specifically with human MCAD, but not with the related enzymes, short-chain and long-chain acyl-CoA dehydrogenases.
|
1594327 |
1992 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
|
20923556 |
2010 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations--involved in the expression of the disease.
|
7740006 |
1995 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Results of in vitro probing of intact fibroblasts from both patients with methyl[2H3]palmitate and L-carnitine revealed greatly increased [2H3]butyrylcarnitine; however, the ratio of dehydrogenase activity with butyryl-CoA with anti-MCAD inactivating antibody (used to reveal SCAD-specific activity) to that with octanoyl-CoA was normal, excluding a selective SCAD or MCAD deficiency.
|
14707514 |
2003 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A point mutation (adenine to guanine at position 985) in exon 11 of the medium-chain acyl-CoA dehydrogenase gene accounts for 90% of medium-chain acyl-CoA dehydrogenase deficiency-causing alleles.
|
8640038 |
1996 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the penetrance of the MCAD genotypes is unknown; there appears to be a substantial number of asymptomatic MCADD individuals and some uncertainty regarding which individuals will manifest symptoms and which individuals will remain asymptomatic.
|
11263545 |
2001 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
In contrast to what others have reported, the ratio of C8/C10 did not differentiate the group B controls from heterozygotes or other patients in metabolic distress (group C2), but were lower than those seen in classic MCAD or mild MCAD deficiency.
|
14970748 |
2004 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism.
|
24966162 |
2014 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).
|
8127075 |
1993 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
|
29350094 |
2018 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first molecular identification of MCADD in an Arab patient and the first reported splice mutation in the MCAD gene that has been functionally characterized.
|
15171999 |
2004 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
|
26947917 |
2016 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological parameters of patients with MCAD deficiency born between 2007 and 2015.
|
31012112 |
2019 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on two siblings with mild MCAD deficiency associated with a novel splice site mutation in the ACADM gene.
|
26223887 |
2015 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For MCAD deficiency the key question is why 80% of symptomatic patients are homozygous for the prevalent ACADM gene variation c.985A > G whereas this is found in only approximately 50% of newborns with a positive screen.
|
18836889 |
2008 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency.
|
1601002 |
1992 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study we document (1) that the G985 heterozygous frequency in the Caucasian population of North Carolina in the USA is 1/84, which is 5- to 10-fold higher than in non-Caucasian Americans; (2) that there exists a 100% association of the G985 mutation in 17 families with MCAD-deficient patients to a certain haplotype, defined by the restriction endonucleases BanII, PstI and TaqI; (3) that MCAD deficiency due to the G985 mutation is more frequent in the Netherlands, Ireland, England, Belgium and Denmark than in other western European countries, and (4) that the frequency distribution of G985 mutation carriers is 1/68-1/101 in newborns in the United Kingdom and Denmark, and 1/333 in Italy.
|
7904584 |
1994 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we have identified a new mutation in the MCAD gene and have developed a nucleic-acid-based screening approach which allows the post mortem identification of MCAD deficiency.
|
1356169 |
1992 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All the experiments are consistent with the contention that the G985 mutation, resulting in a lysine to glutamate shift at position 329 in the MCAD polypeptide chain, is the genetic cause of MCAD deficiency in this family.
|
1902818 |
1991 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Measurement of MCAD activity using phenylpropionyl-CoA as a substrate further discriminated between newborns with MCAD deficiency and so-called mild MCAD deficiency.
|
18188679 |
2008 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we use patient cells, model minigenes, and in vitro assays to show that a missense mutation in exon 5 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene primarily causes exon skipping by inactivating a crucial exonic splicing enhancer (ESE), thus leading to loss of a functional protein and to MCAD deficiency.
|
17273963 |
2007 |