Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

ABSTRACT:

Background

This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype.

Methods

Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinical and laboratory data were reviewed retrospectively from medical records.

Results

Fifteen cases (13 males, 2 females) presented with early onset; 53 cases (21 males, 32 females) had late onset, and one female was asymptomatic. The median onset age was 1.5 years (range 1 day-56 years). Urine orotic acid levels were increased in all patients tested, while only 47.6% of patients showed decreased serum levels of citrulline. The peak plasma ammoni

SUBMITTER: Lu D 

PROVIDER: S-EPMC7712605 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature