Neonate-onset ornithine transcarbamylase deficiency

GAO Rui-Wei, BA Yin, ZHANG Rong, CAO Yun, YANG Lin, WU Bing-Bing, ZHOU Wen-Hao, ZHOU Jian-Guo

Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (4) : 431-435.

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Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (4) : 431-435. DOI: 10.7499/j.issn.1008-8830.2302023
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE

Neonate-onset ornithine transcarbamylase deficiency

  • GAO Rui-Wei, BA Yin, ZHANG Rong, CAO Yun, YANG Lin, WU Bing-Bing, ZHOU Wen-Hao, ZHOU Jian-Guo
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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.

Key words

Ornithine transcarbamylase deficiency / Seizure / Central respiratory failure / Hyperammonemia / Neonate

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GAO Rui-Wei, BA Yin, ZHANG Rong, CAO Yun, YANG Lin, WU Bing-Bing, ZHOU Wen-Hao, ZHOU Jian-Guo. Neonate-onset ornithine transcarbamylase deficiency[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(4): 431-435 https://doi.org/10.7499/j.issn.1008-8830.2302023

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