Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.
نویسندگان
چکیده
Two newborn infants, male (A) and female (B), with lethal hyperammonaemia are described in the same family. In both, symptoms started on the second day of life. Lethargy and hypotonia were the most prominent initial findings and were followed by convulsions and coma. In both, blood ammonia levels rose to 570 mumol/u (795 microgram/100 ml) a few hours before death, which occurred on the third and fourth day of life respectively. Assay of liver urea cycle enzymes in baby B showed a complete absence of mitochondrial carbamyl phosphate synthetase activity.
منابع مشابه
Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.
The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the pati...
متن کاملSuccessful treatment of severe carbamyl phosphate synthetase I deficiency.
We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.
متن کاملPeriodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.
Hyperammonaemia due to a deficient urea cycle (Fig. 1) has been attributed to at least four distinct enzyme defects: (1) hyperanmmonaemia due to a defect of carbamyl-phosphate synthetase L. the liver (Freeman et al., 1964); (2) hyperammonaemia due to a defect of ornithine carbamyl transferase with or without defect of carbamyl phosphate synthetase in the liver (Russell et al., 1962; Hopkins et ...
متن کاملOrnithine Transcarbamylase Deficiency
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
متن کامل[Ornithine transcarbamylase deficiency].
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 53 3 شماره
صفحات -
تاریخ انتشار 1978