Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency
Glutaryl-CoA dehydrogenase (EC 220.127.116.11) 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).
KeywordsPrenatal Diagnosis Index Case Chorionic Villus Residual Enzyme Activity Glutaric Acid
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- 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