Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA
B. S. Andresen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorP. Bross
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorI. Knudsen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorV. Winter
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorS. Kølvraa
Institute of Human Genetics, University of Aarhus, Århus, Denmark
Search for more papers by this authorL. Bolund
Institute of Human Genetics, University of Aarhus, Århus, Denmark
Search for more papers by this authorN. Gregersen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorB. S. Andresen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorP. Bross
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorI. Knudsen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorV. Winter
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this authorS. Kølvraa
Institute of Human Genetics, University of Aarhus, Århus, Denmark
Search for more papers by this authorL. Bolund
Institute of Human Genetics, University of Aarhus, Århus, Denmark
Search for more papers by this authorN. Gregersen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, DK 8200 Denmark
Search for more papers by this author
References
- 1Andresen BS, Bross P, Jensen TG et al (1993) 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). Am J Hum Genet, 53: 730–739.
- 2Andresen BS, Kølvraa S, Bross P et al (1993) A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene. Hum Molec Genet, 2: 488.
- 3Gregersen N, Andresen BS, Bross P et al (1991) 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 protein in. E. coli. Hum Genet, 86: 545–551.
- 4Gregersen N, Blakemore A, Winter V et al (1991) Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. Clin Chim Acta, 203: 23–34.
- 5Kølvraa S, Gregersen N, Blakemore A et al (1991) The most common mutation causing medium-chain acyl-CoA dehydrogenase (MCAD) deficiency probably occurs exclusively on chromosomes with a particular haplotype in the region of the gene. Hum Genet, 87: 425–429.
- 6Roe CR, Coates PM, Scriver CR, Beaudet AL, Sly WS, Valle D (1989) The acyl-CoA dehydrogenase deficiencies. In: The Metabolic Basis of Inherited Disease, 6th edn.. New York: McGraw-Hill, 889–914.
- 7Tanaka K, Yokota I, Coates PM et al (1992) Mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat, 1: 271–279.
- 8Yokota I, Coates P, Hale DE et al (1991) 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. Am J Hum Genet, 49: 1280–1291.
