Open AccessSiblings with carbamyl phosphate synthetase i deficiency
Author(s) -
Asanuma Katsumi,
Takeuchi Yutaka,
Kanda Mikio,
Kikuchi Yoshitomo,
Yano Naoki,
Kakinuma Hiroaki
Publication year - 1984
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1984.tb07621.x
Subject(s) - hyperammonemia , carbamyl phosphate , autopsy , vomiting , medicine , oliguria , pediatrics , gastroenterology , jaundice , pathology , physiology , biology , enzyme , biochemistry , renal function
This paper concerns with two autopsied cases of siblings who died from cerebral disturbances. In these patients hyperammonemia developed in the neonatal phase due to carbamyl phosphate synthetase I (CPS I) deficiency. The patient in Case 1 was admitted 2 days after birth because of oliguria and vomiting. Hyperammonemia developed and she died on the 43rd day. In Case 2 hyperammonemia developed from the 2nd day after birth and she expired on the 42nd day. In both cases the diagnosis of CPS I deficiency was established from autopsy findings of the liver. Acta pathol. jpn. 34: 901∼910, 1984.