Prenatal diagnosis of carbamoyl phosphat
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Ulrich Finckh; Alfried KohlschΓΌtter; HansjΓΆrg SchΓ€fer; Katja Sperhake; Jean-Pier
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Article
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1998
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John Wiley and Sons
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English
β 597 KB
Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive metabolic disorder affecting the first enzymatic step of urea cycle. We report a consanguineous family in which the index patient died at 11 days of age from a severe form of CPS1 deficiency. Initial diagnosis was based on