Abstract: 【Abstract】A case of 7 month and 25 days female child was reported in this article. The patient was treatedfor poor interaction response, accompanied by developmental delay, feeding difficulties, hypotonia, abnormalhearing, and special facial features. Laboratory tests showed significant increases in transaminase and bileacids, high-throughput whole exon tests showed complex heterozygous mutations of peroxidase (PEX1) gene,and serum very-long-chain fatty acids were elevated. Zellweger spectrum disorder (ZSD) was diagnosed according to the clinical manifestations of the child. Ursodeoxycholic acid treatment was given, and treatment such as rehabilitation training was suggested. By reporting this case of a child with ZSD caused by PEX1 gene mutation and reviewing relevant literature, the clinical characteristics, diagnosis and treatment methods of the disease were summarized to improve the understanding of the disease.
刘苏颖 麻宏伟. PEX1 基因突变导致的Zellweger 谱系障碍1 例并文献复习[J]. 发育医学电子杂志, 2025, 13(1): 62-65.
Liu Suying, Ma Hongwei . A case of Zellweger spectrum disorder caused by PEX1 gene mutation and literature review. Journal of Developmental Medicine(Electronic Version), 2025, 13(1): 62-65.
Guidelines for construction and management of Neonatal Units in China(Recommendations). Standard/Protocol/Guideline[J]. Journal of Developmental Medicine(Electronic Version), 2015, 3(4): 193
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2025, Vol. 13 
