Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

ABSTRACT:

Background

Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS).

Methods and results

Data of 63 patients were collected (27 patients with ASS deficiency, 23 patients with OTC

SUBMITTER: Unsinn C 

PROVIDER: S-EPMC4991093 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature