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Article

Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2020

Tao Yilun, Han Dong, Li Xiyuan, Wang Lihong, Yue Lili, Huang Chenggang, Lu Dandan, Li Xiaoze

Abstract excerpt

Ethylmalonic encephalopathy (EE) is a rare and devastating neurodegenerative disease caused by mutations in the ETHE1 gene. It is characterized by early-onset encephalopathy, chronic diarrhea, petechiae, orthostatic acrocyanosis, and high levels of methylsuccinic, lactic, and ethylmalonic acids in body fluids. In this study, we report a patient with EE, who was identified through newborn screening, and the...

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PMID: 32485156
DOI: 10.1016/j.cca.2020.05.051

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