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Literature DB >> 206210

Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.

S Mantagos, S Tsagaraki, E A Burgess, V Oberholzer, T Palmer, J Sacks, S Baibas, T Valaes.

Abstract

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.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1978 PMID： 206210 PMCID： PMC1545134 DOI： 10.1136/adc.53.3.230

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

19 in total

1. Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.

Authors: G W BROWN; P P COHEN
Journal: J Biol Chem Date: 1959-07 Impact factor: 5.157

2. A SIMPLE METHOD FOR THE QUANTITATIVE DETERMINATION OF URINARY PSEUDOURIDINE AND SOME NEW ULTRAVIOLET-ABSORBING METABOLITES.

Authors: H RINDERKNECHT; J F RINDERKNECHT
Journal: J Lab Clin Med Date: 1965-06

3. The free amino acids of human blood plasma.

Authors: W H STEIN; S MOORE
Journal: J Biol Chem Date: 1954-12 Impact factor: 5.157

4. Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia.

Authors: L J Sheffield; D M Danks; J W Hammond; N J Hoogenraad
Journal: J Pediatr Date: 1976-03 Impact factor: 4.406

5. Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.

Authors: P J Snodgrass; G R DeLong
Journal: N Engl J Med Date: 1976-04-15 Impact factor: 91.245

6. Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids.

Authors: M Batshaw; S Brusilow; M Walser
Journal: N Engl J Med Date: 1975-05-22 Impact factor: 91.245

7. Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.

Authors: P D Gatfield; E Taller; D M Wolfe; M D Haust
Journal: Pediatr Res Date: 1975-05 Impact factor: 3.756

8. Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria.

Authors: T Palmer; V G Oberholzer; B Levin
Journal: Clin Chim Acta Date: 1974-05-17 Impact factor: 3.786

9. Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.

Authors: T Brown; G Hug; L Lansky; K Bove; A Scheve; M Ryan; H Brown; W K Schubert; J C Partin; J Lloyd-Still
Journal: N Engl J Med Date: 1976-04-15 Impact factor: 91.245

Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.

1. Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.

2. A SIMPLE METHOD FOR THE QUANTITATIVE DETERMINATION OF URINARY PSEUDOURIDINE AND SOME NEW ULTRAVIOLET-ABSORBING METABOLITES.

3. The free amino acids of human blood plasma.

4. Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia.

5. Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.

6. Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids.

7. Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.

8. Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria.

9. Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.

10. Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.

1. Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

2. Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

3. Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

4. Three instances of neonatal death with hyperammonaemia, each resulting from a different cause.