Neonate-onset ornithine transcarbamylase deficiency.
10.7499/j.issn.1008-8830.2302023
- Author:
Rui-Wei GAO
1
;
Yin BA
1
;
Rong ZHANG
1
;
Yun CAO
1
;
Lin YANG
;
Bing-Bing WU
;
Wen-Hao ZHOU
1
;
Jian-Guo ZHOU
1
Author Information
1. Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China.
- Publication Type:Journal Article
- Keywords:
Central respiratory failure;
Hyperammonemia;
Neonate;
Ornithine transcarbamylase deficiency;
Seizure
- MeSH:
Humans;
Infant, Newborn;
Male;
Citrulline;
Electroencephalography;
Hyperammonemia;
Ornithine Carbamoyltransferase Deficiency Disease/therapy*;
Seizures
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(4):431-435
- CountryChina
- Language:Chinese
-
Abstract:
The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.
