Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
M. J. Bennett
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246 USA
Search for more papers by this authorM. J. Weinberger
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246 USA
Search for more papers by this authorW. G. Sherwood
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246 USA
Search for more papers by this authorA. B. Burlina
Department of Pediatrics, University of Padua, Padua, Italy
Search for more papers by this authorM. J. Bennett
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246 USA
Search for more papers by this authorM. J. Weinberger
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246 USA
Search for more papers by this authorW. G. Sherwood
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246 USA
Search for more papers by this authorA. B. Burlina
Department of Pediatrics, University of Padua, Padua, Italy
Search for more papers by this author
References
- 1Bennett MJ, Sherwood WG, Gibson KM, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inher Metab Dis, 16: 560–562.
- 2Bergoffen J, Kaplan P, Hale DE, Bennett MJ, Berry GT (1993) Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chainl-3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis, 16: 851–856.
10.1007/BF00714277 Google Scholar
- 3Carpenter K, Pollitt RJ, Middleton B (1992) Human liver long-chain 3-hydroxyacyl-coenzyme-A dehydrogenase is a multifunctional membrane-bound beta oxidation enzyme of mitochondria. Biochem Biophys Res Commun, 183: 443–448.
- 4Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W (1993) Muscle cytochromec oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inher Metab Dis, 16: 553–556.
10.1007/BF00711679 Google Scholar
- 5, Hagenfeldt L, Wibom R, Venizelos N, vonDobeln, U (1992) Oxidation of fatty acids in fibroblasts from patients with respiratory chain defects. Proc 30th Symposium SSIEM, p. 136 (Abstract)..
- 6Hale DE, Thorpe C, Braat K et al (1990) Thel-3-hydroxyacyl-CoA dehydrogenase deficiency. Prog Clin Biol Res, 321: 503–510.
- 7Lehnert W, Ruitenbeek W (1993) Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency. J Inher Metab Dis, 16: 557–559.
10.1007/BF00711680 Google Scholar
- 8Manning NJ, Olpin SE, Pollitt RJ, Webley J (1990) Comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts. J Inher Metab Dis, 13: 58–68.
- 9Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ (1992) Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts. J Inher Metab Dis, 15: 883–890.
- 10Pollitt RJ (1990) Clinical and biochemical presentation in 20 cases of hydroxydicarboxylic aciduria. Prog Clin Biol Res, 321: 495–502.
- 11Wanders RJA, Duran I, IJlst L et al (1989) Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Lancet, 1: 52–53.
10.1016/S0140-6736(89)90300-0 Google Scholar
- 12Wanders RJA, IJlst L, vanGennip et al (1990) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid β-oxidation. J Inher Metab Dis, 13: 311–314.
