Hyperammonemia in Inherited Metabolic Diseases: A Case Report

TL;DR

This case report discusses a newborn with a rare metabolic disorder and emphasizes the importance of early diagnosis to prevent severe neurological damage.

Contribution

The report highlights the challenges in diagnosing ornithine transcarbamylase deficiency and advocates for expanded newborn screening programs.

Findings

Neonatal hyperammonemia due to OTC deficiency can present with nonspecific symptoms, delaying diagnosis.

Early clinical suspicion and rapid biochemical testing are crucial for timely management.

Expanding newborn screening is recommended to improve outcomes in inherited metabolic diseases.

Abstract

Neonatal hyperammonemia is a medical emergency where diagnostic delay can lead to catastrophic neurological outcomes. This case report of a full-term male infant with ornithine transcarbamylase (OTC) deficiency highlights the critical challenges in its early recognition and management. The initial presentation of inborn errors of metabolism is often nonspecific in the neonatal period, and while biochemical testing is essential, it is not always rapidly available. Our experience underscores that a high index of clinical suspicion is paramount. Furthermore, this case reinforces the urgent need to expand newborn screening programs to facilitate a prompt diagnosis, allowing for the immediate initiation of treatment. Such measures are vital to prevent the irreversible pathological processes that lead to severe disability or increased mortality in these patients.