Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report.

ABSTRACT:

Background

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD), caused by a deficiency of the OTC enzyme, leading to the accumulation of toxic ammonia in the blood. Neonatal-onset OTCD is associated with high mortality and severe neurodevelopmental impairments. Symptoms are often non-specific and can mimic neonatal sepsis. If untreated, the condition can rapidly progress to neurological damage. Early diagnosis and prompt intervention are crucial for improving survival and long-term outcomes.

Case description

We report a case of a 9-day-old male infant diagnosed with neonatal-onset OTCD, who presented with lethargy and poor feeding. Initial ammonia levels were found to be elevated at 428 µmol/L, prompting the initiation of supportive care

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC12597182 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature