Newborn ornithine carbamyltransferase deficiency caused by new OTC gene mutations: a report of two cases and review of the literature on phenotype and genotype.

ABSTRACT:

Background

Ornithine carbamyltransferase deficiency (OTCD) is the most common urea cycle disorder disease. Neonatal-type cases usually involve a serious condition, including the complete loss of ornithine carbamyltransferase (OTC) enzyme activities.

Case description

Case 1: A 3-day-old boy was hospitalized due to decreased muscle tone over three days, 10 hours of dyspnea, and two instances of convulsions. Diagnostic tests showed elevated blood ammonia levels, decreased citrulline concentration via mass spectrometry (MS/MS), and increased orotic acid observed by gas chromatography-mass spectrometry (GC/MS), while uracil was normal. Head ultrasound revealed abnormal brain parenchyma, indicating brain damage. Whole exon gene sequencing detected a new pathogenic mutation [c. 961

SUBMITTER: Yu A 

PROVIDER: S-EPMC10644015 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature