First Trimester Prenatal Exclusion of Glutaryl-CoA Dehydrogenase Deficiency (Glutarie Aciduria Type 1)
Glutaryl-CoA dehydrogenase (GDH: EC 188.8.131.52) 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.
KeywordsPrenatal Diagnosis Glutaric Acid Glutaric Aciduria Type Amniotic Fluid Cell Trimester Abortion
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