Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Matsubara, Yoichi; Narisawa, Kuniaki; Miyabayashi, Shigeaki; Tada, Keiya; Coates, Paul M.; Bachmann, C.; Elsas, Louis J.; Pollitt, R. J.; Rhead, William J.; Roe, Charles R.

doi:10.1016/0006-291x(90)91421-n

Cited by 109 publications

(50 citation statements)

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“…MCAD protein with an apparent molecular weight corresponding to the tetramer can be detected in all MCAD expressing samples. The intensities of (6) 6.0 ± 0.1 (2) 4.1 ± 0.8 (6) this band correspond roughly to the relative amounts of MCAD activty measured in the extracts (numeric values are given in the legend to Fig. 4).…”

Section: Consequences Of An Artificial Lysine To Glutamine Muta Tion mentioning

confidence: 81%

“…MCAD deficiency is an autosomal length specific enzymes which catalyze the first step in recessive genetic disease which, in the majority of cases mitochondrial l3-oxidation of straight-chain fatty acids (approx. 90% of the alleles, [4]), is due to a point mutation at position 985 of the cDNA sequence [5][6][7][8] causing a lysine to glutamic acid exchange at position correctly [9]. We have shown that, unlike the wild formation of insoluble aggregates [5,10].…”

Section: Introductionmentioning

confidence: 99%

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Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation

Bross

Andresen

Winter

et al. 1993

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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Section: Consequences Of An Artificial Lysine To Glutamine Muta Tion mentioning

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation

Bross

Andresen

Winter

et al. 1993

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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“…A few cases have been identified in other populations, including one Pakistani patient, one black patient, and isolated cases in individuals of Southern European and Northern African origin. 138,139 Newborn screening in Japan did not identify any carriers. 138 …”

Section: Medium-chain Acyl-coa Dehydrogenasementioning

confidence: 93%

Newborn Screening Fact Sheets

Kaye¹

2006

Pediatrics

154

110

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Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to newborn screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: www.pediatrics.org/cgi/content/full/118/3/1304). These topics are newborn screening as a public health system; factors contributing to the need for review of the newborn screening system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening; status of newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.

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“…Matsubara et a1 found 3 1 of 34 (9 1 %) MCAD deficiency alleles to be G-985 and Yokota el al. found 18 of 18 (100%) alleles to be G-985 (7,8). In a larger series, Gregersen er 01.…”

mentioning

confidence: 98%

Frequency of Medium-Chain Acyl-CoA Dehydrogenase Deficiency G-985 Mutation in Sudden Infant Death Syndrome

et al. 1992

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ABSTRACT. A small percentage of apparent sudden infant death syndrome (SIDS) victims may have an unsuspected metabolic disorder. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of fatty acid oxidation that has been the most common such metabolic disorder found in series of SIDS victims. A single mutation in MCAD deficiency has been recently described (G-985) that accounts for approximately 90% of MCAD deficiency mutations. We studied the hypothesis that heterozygosity or homozygosity for this specific MCAD deficiency mutation might be associated with SIDS. DNA was extracted from the paraffin-embedded autopsy tissues of 67 victims of SIDS in Monroe County, NY who died between 1984 and 1989. Using the polymerase chain reactionlNco1 digestion method, we found no (2-985 homozygotes and three (4.5%) G-985 heterozygotes. In 70 newborn controls, there were no G-985 homozygotes and one (1.4%) heterozygote. Although the frequency of G-985 heterozygotes was slightly greater than in our control group, it was not statistically different. We conclude that the specific MCAD deficiency mutation G-985 is not strongly associated with SIDS and that MCAD deficiency probably does not make a significant contribution to the etiology of SIDS. retrospective study of 200 infants in England who unexpectedly died showed that 14 (7%) had microscopic evidence of fatty changes in various tissues, suggesting a disorder of fatty acid oxidation (2). Enzyme analysis of tissues in nine of these 14 cases showed three cases of MCAD deficiency and one case of longchain acyl-CoA dehydrogenase deficiency. This observation and similar observations by others have suggested that fatty acid oxidation defects should be considered in any infant that dies with SIDS or in any baby or child who has an unexpected death (3, 4). There is controversy, however, as to whether fatty acid oxidation defects are present in increased frequency in SIDS (5). 30MCAD deficiency is the most common enzyme deficiency in fatty acid oxidation (6). Affected children usually present within the first 2 y of life with recurrent episodes of hypoglycemia that are brought on by poor nutritional intake often associated with a respiratory or gastrointestinal viral infection. Affected children often present in a coma or with an altered level of consciousness. The striking laboratory abnormality is that despite the hypoglycemia these children have a trace of or no ketone bodies in their urine. The inability to make ketone bodies reflects their inability to metabolize medium-chain fatty acids. Approximately 25% of affected children die during their initial presentation (6). Between episodes of illness, the children are clinically normal and healthy. MCAD deficiency is an autosomal recessive disorder, so there is sometimes an affected sibling.The molecular basis of MCAD deficiency mutations was recently described by Matsubara et al. (7) and Yokota et al. (8). Each showed that there was one prevalent mutation in documented cases of MCAD deficiency, an A to G mutation at po...

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Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Cited by 109 publications

References 10 publications

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation

Newborn Screening Fact Sheets

Frequency of Medium-Chain Acyl-CoA Dehydrogenase Deficiency G-985 Mutation in Sudden Infant Death Syndrome

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