Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency
Copyright policy )Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency
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).
- University of Gothenburg Sweden
Oxidoreductases Acting on CH-CH Group Donors, Glutaryl-CoA Dehydrogenase, Infant, Glutarates, Chorionic Villi Sampling, Pregnancy, Reference Values, Prenatal Diagnosis, Amniocentesis, Humans, Female, Oxidoreductases, Metabolism, Inborn Errors
Oxidoreductases Acting on CH-CH Group Donors, Glutaryl-CoA Dehydrogenase, Infant, Glutarates, Chorionic Villi Sampling, Pregnancy, Reference Values, Prenatal Diagnosis, Amniocentesis, Humans, Female, Oxidoreductases, Metabolism, Inborn Errors
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