Dataset Information
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Ontology highlight
ABSTRACT:
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 ammonia levels were higher in early-onset patients than in late-onset patients (P?
Conclusions: The evaluation of serum citrulline level is of limited value in diagnosis of OTCD, while urine orotic acid detection and genetic testing are more helpful.
SUBMITTER: Lu D
PROVIDER: S-EPMC7712605 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Publications
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Orphanet journal of rare diseases 20201203 1
<h4>Background</h4>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.<h4>Methods</h4>Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinical and laboratory data were reviewed retrospectively from medical records.<h4>Results</h4>Fifteen cases (13 males, 2 females) presented with early onset; ...[more]