Copyright © 1993-2019, University of Washington, Seattle. GeneReviews isa registered trademark of the University of Washington, Seattle. All rightsreserved.
. NBME Biochemistry #97479: pth - 06/25/06 10:16: METABOLISM 1. In the biosynthesis of glucose from pyruvate by the liver, the first intermediate formed from pyruvate is A) acetyl CoA B) alanine C) lactate D) methylmalonyl CoA E) oxaloacetate METABOLISMO: AMINO ACIDS 2. I don't know how questions typically differentiate between them, but theoretically patients would respond differently to long vs medium chain fatty acid challenges. MCADD is a deficiency of the medium chain acyl-CoA dehydrogenase. There is a short chain enzyme as well, and that's not affected as far as I know.
GeneReviews® chapters are owned by the University of Washington. Permission ishereby granted to reproduce, distribute, and translate copies of content materials fornoncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2019 University ofWashington) are included with each copy; (ii) a link to the original material is providedwhenever the material is published elsewhere on the Web; and (iii) reproducers,distributors, and/or translators comply with the GeneReviews® Copyright Notice and UsageDisclaimer. No further modifications are allowed. For clarity, excerptsof GeneReviews chapters for use in lab reports and clinic notes are a permitteduse.
For more information, see the GeneReviews® Copyright Notice and UsageDisclaimer.
For questions regarding permissions or whether a specified use is allowed,contact: ude.wu@tssamda.
- Andresen BS, Knudsen I, Jensen PKA, Rasmussen K, Gregersen N (1992) Two novel nonradioactive PCR-based assays in which dried blood spots, genomic DNA or whole cells are used for fast and reliable detection of the Z and S mutations in the gene for a-1-antitrypsin. Clin Chem 38: 2100–2107.Google Scholar
- Andresen BS, Bross P, Vianey-Saban C, et al (1996a) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identi-cation in four patients of 9 different mutations within this gene. Hum Mol Genet 5: 461–472.Google Scholar
- Andresen BS, Vianey-Saban C, Bross P, et al (1996b) The mutational spectrum in very-longchain acyl-CoA dehydrogenase (VLCAD) deficiency. J Inher Metab Dis19: 169–172.Google Scholar
- Andresen BS, Olpin S, Poorthuis BJHM, et al (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: (in press).Google Scholar
- Brown-Harrison MC, Nada MA, Sprecher H, et al (1996) Very-long-chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med 58: 59–65.Google Scholar
- Gregersen N, Winter V, Jensen PKA, et al (1995) Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a fatal case of sudden unexpected death in childhood. Prenat Diagn 15: 82–86.Google Scholar
- Nada MA, Vianey-Saban, Roe CR, et al (1996) Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn 16: 117–124.Google Scholar
- Olpin SE, Manning NJ, Pollitt RJ, Clark S (1997) Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-acid. J Inher Metab Dis 20: 415–419.Google Scholar
- Sluysmans T, Tuerlinckx D, Hubinont C, Verellen-Dumoulin C, Brivet M, Vianey-Saban C (1997) Very long-chain acyl-CoA dehydrogenase de-ciency in two siblings: Evolution after prenatal diagnosis and prompt management. J Pediatr 131: 444–446.Google Scholar
- Vianey-Saban C, Divry P, Brivet M, et al (1998) Mitochondrial long-chain acyl-CoA dehydrogenase de-ciency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43–62. J. Inher. Metab. Dis. 22 (1999)Google Scholar