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CARBAMYL‐PHOSPHATE‐SYNTHETASE DEFICIENCY WITH NEONATAL ONSET OF SYMPTOMS
Author(s) -
FARRIAUX J. P.,
PONTE CI.,
POLLITT R. J.,
LEQUIEN P.,
FORMSTECHER P.,
DHONDT J. L.
Publication year - 1977
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1977.tb07940.x
Subject(s) - medicine , carbamyl phosphate , pediatrics , enzyme , biochemistry , chemistry
. 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.