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Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency

  • E. Holme
  • M. Kyllerman
  • S. Lindstedt

Abstract

Glutaryl-CoA dehydrogenase (EC 1.3.99.7) participates in the degradative pathways of lysine and tryptophan. Deficiency of this enzyme is the primary defect of glutaric aciduria I (McKusick 23167) (Goodman et al., 1975). Most children with this disorder develop a severe dyskinetic-dystonic syndrome with a sudden onset often precipitated by an infection (Brandt et al., 1978).

Keywords

Prenatal Diagnosis Index Case Chorionic Villus Residual Enzyme Activity Glutaric Acid 
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. Brandt, N. J., Brandt, S., Christensen, E., Gregersen, N. and Rasmussen, K. Glutaric aciduria in progressive choreo-athetosis. Clin. Genet. 13 (1978) 77–80PubMedCrossRefGoogle Scholar
  2. Christensen, E. and Brandt, N. J. Studies on glutaryl-CoA dehydrogenase in leukocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. Clin. Chico. Acta 88 (1978) 267–276CrossRefGoogle Scholar
  3. Goodman, S. I., Markey, S. P., Moc, P. G., Miles, B. S. and Teng, C. C. Glutaric aciduria: a ‘new’ inborn error 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 Whelan, D.T. Antenatal diagnosis of glutaric acidemia. Am. J. Hum. Genet. 32 (1980) 695–699Google Scholar
  5. Kyllerman, M. and Steen, G. Intermittently progressive dyskinetic syndrome in glutaric aciduria. Neuropädiatrie 8 (1977) 397–404PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • E. Holme
    • 1
  • M. Kyllerman
    • 2
  • S. Lindstedt
    • 1
  1. 1.Department of Clinical ChemistryGothenburg University, Sahlgren’s HospitalGothenburgSweden
  2. 2.Department of Pediatrics IIGothenburg University, East HospitalGothenburgSweden

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