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A lethal neonatal variant of carbamoyl‐phosphate synthetase deficiency in combination with an intermediate activity of L‐ornithine: 2‐oxoglutarate amino‐transferase
Author(s) -
Heiden C. Van Der,
Beemer F.A.,
Dijk H.A. van,
Desplanque J.,
Gerards L. J.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb00447.x
Subject(s) - ornithine , carbamoyl phosphate synthetase , endocrinology , medicine , enzyme , carbamyl phosphate , hypotonia , biology , biochemistry , amino acid , chemistry , arginine
Shortly after birth, a newborn girl developed anorexia, hypotonia, apneic attacks and seizures. After 61 h the child died in coma. Biochemically, a highly elevated blood ammonia level was found together with an increased plasma level of the amino acids mainly involved in ammonia detoxication. Enzyme studies in post‐mortem liver tissue material revealed a deficiency of carbamoyl‐phosphate synthetase (0.9% of the mean value in controls) in combination with an intermediate activity of L‐ornithine: 2‐oxoglutarate aminotransferase (40% of the mean value in controls).