Acta Paediatr Scand. 1977 Jul;66(4):529-34.

Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.

Farriaux JP, Ponte C, Pollitt RJ, Lequien P, Formstecher P, Dhondt JL.

Abstract

The clinical course and biochemical findings in a case of carbamyl-phosphate-synthetase deficiency are described. The patient, a boy, presented 48 h after birth with rapidly developing hypotonia and hypothermia. Pulmonary haemorrhage, melaena and haematemesis ensued and despite ventilatory assistance and peritoneal dialysis the patient died on the fifth day. A virtual absence of carbamyl phosphate synthetase I (N-acetylglutamate dependent) was proved by analysis of tissue samples removed post mortem. Other urea cycle enzymes were normal.

PMID:: 197778; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

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