2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-A 25-month-old boy presenting with vomiting, dehydration, respiratory distress, and progressive lethargy: A Case Study

A 25-month-old boy presenting with vomiting, dehydration, respiratory distress, and progressive lethargy: A Case Study

Video Transcription

Video Summary

In this video, a case study is presented of a 25-month-old boy who was admitted to the hospital with symptoms of vomiting, dehydration, respiratory distress, and lethargy. The medical team observed that the child was developmentally behind and had elevated levels of blood ammonia. After extensive testing, including newborn screening and genetic analysis, a diagnosis of a proximal urea cycle disorder was made. Treatment was initiated, including a low-protein diet, supplementation, and administration of sodium phenylbutyrate to reduce ammonia levels. However, the child's development remained delayed and his ammonia levels fluctuated. Eventually, the child was started on carboglumic acid, which dramatically improved his ammonia levels and overall condition. Genetic testing revealed that the child had N-acetylglutamate synthase (NAGS) deficiency. Treatment with carboglumic acid restored the function of the urea cycle, leading to improved development and stabilized ammonia levels. The video concludes with important safety information regarding carboglumic acid.

Asset Subtitle

Recordati Rare Diseases

Keywords

case study

25-month-old boy

hospital admission

proximal urea cycle disorder

carboglumic acid

N-acetylglutamate synthase deficiency