Abstract
Inherited deficiency of hepatic mitochondrial carbamyl phosphate synthetase (CPS I), the first enzyme of the urea cycle, is a rare cause of hyperammonemia and protein intolerance. The paucity of affected individuals and the lack of family studies have hitherto precluded definition of the mode of inheritance. We now report in its entirety a family with two children affected with partial CPS I deficiency. The proband, a 16 year old girl, was ascertained when hyperammonemia accompanied an episode of encephalopathy. Moderate psychomotor retardation in the proband and her two sibs (1 female; 1 male) necessitated diagnostic liver biopsies for urea cycle enzyme assays. Isolated deficiency of CPS I was observed in the proband's liver (6% of control mean) and that of her sister (5% of control); the brother's activity was well within the range of appropriate control values (see table).
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Mcreynolds, J., Crowley, B., Mahoney, M. et al. 536 EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE OF MITOCHONDRIAL CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY. Pediatr Res 12 (Suppl 4), 453 (1978). https://doi.org/10.1203/00006450-197804001-00541
Issue Date:
DOI: https://doi.org/10.1203/00006450-197804001-00541