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N ‐acetylglutamate synthetase deficiency: Clinical and laboratory observations
Author(s) -
Pandya A. L.,
Koch R.,
Hommes F. A.,
Williams J. C.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799936
Subject(s) - hyperammonemia , urea cycle , medicine , orotic acid , endocrinology , lethargy , metabolic acidosis , argininosuccinate lyase , ornithine , sodium benzoate , arginine , citrulline , argininosuccinate synthase , citrullinemia , ornithine transcarbamylase , acidosis , biology , biochemistry , amino acid
Summary Two male siblings presented in the first 6 weeks of life with emesis, diarrhoea, metabolic acidosis and lethargy. A male sibling had previously died at 14 months of age from liver failure of unknown aetiology. Both of the current cases had mild hyperammonaemia with normal orotic acid, organic acid and argininosuccinic acid levels. Citrulline and arginine levels were normal or mildly decreased. One of the brothers was biopsied and had no detectable N ‐acetylglutamate synthetase activity and normal values for other enzymes of the urea cycle in liver. Treatment with a low‐protein diet and sodium benzoate/sodium phenylacetate resulted in near normal blood ammonia levels, except during viral illness. Subsequent neurological development has been normal to mildly delayed. These patients differ from those previously decribed with N ‐acetylglutamate synthetase deficiency in that their presentation and subsequent course were relatively benign.