First Trimester Prenatal Exclusion of Glutaryl-CoA Dehydrogenase Deficiency (Glutarie Aciduria Type 1)

  • E. Christensen

Abstract

Glutaryl-CoA dehydrogenase (GDH: EC 1.3.99.7) deficiency, glutaric aciduria type 1 (GA1; McKusick 23167) is an autosomal recessively inherited inborn error of lysine and tryptophan catabolism. The first case was described in the USA by Goodman et al. in 1975. Up to now about 16 patients have been described in the literature (Amir et al., 1987) but the author is aware of 30 other cases from a region including only Europe and Israel.

Keywords

Prenatal Diagnosis Glutaric Acid Glutaric Aciduria Type Amniotic Fluid Cell Trimester Abortion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Amir, N., Elpeleg, O., Shalev, R. S. and Christensen, E. Glutaric aciduria type I: Clinical heterogeneity and neuroradiologic features. Neurology 37 (1987) 1654–1657PubMedGoogle Scholar
  2. Christensen, E. Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I. Clin. Chim. Acta 129 (1983) 91–97PubMedCrossRefGoogle Scholar
  3. Goodman, S. I., Markey, S. P., Moe, P. G., Miles, B. S. and Teng, C. C. Glutaric aciduria; a ‘new’ disorder of amino acid metabolism. Biochem. Med. 12 (1975) 12–21PubMedCrossRefGoogle Scholar
  4. Goodman, S. I., Gallegos, D. A., Pullin, C. J., Halpern, B., Truscott, R. J. W., Wise, G., Wilcken, B. Ryan, E. D. and Whelen, D. T. Antenatal diagnosis of glutaric acidemia. Am. J. Hum. Genet. 32 (1980) 695–699PubMedGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • E. Christensen
    • 1
  1. 1.Section of Clinical GeneticsUniversity Department of PaediatricsCopenhagenDenmark

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