Objectives: To report the clinical and laboratory characteristics of urea cycle disorder (UCD) patients at a tertiary care center in a developing country.
Design and methods: Retrospective study of clinical and laboratory data of UCD patients.
Results: Thirty-seven UCD patients were studied, 31 symptomatic (high risk) patients (15 neonatal onset, 16 late onset) and 6 with positive neonatal screening. Argininosuccinate synthetase deficiency was the most frequent disease (17/37, 46%), followed by ornithine transcarbamylase (10/37, 27%), arginase (7/37, 19%), and argininosuccinate lyase (3/37, 8%) deficiencies. Mortality of symptomatic patients was 38% (10/26), neonatal onset had the worst outcome, with 50% of survival.
Conclusions: In Mexico, the mortality of the UCD patients is higher than those reported in other countries, and neurological sequels are frequent and severe. It is essential to implement practice guidelines for the professional management of these patients.
Copyright 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.