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缺少PPA1会导致乱的银河糖代谢,在新生儿查中可识别

Melanie T Achleitner1, Judith J M Jans2,3, Laura Ebner1

  • 1University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University, 5020 Salzburg, Austria.

Metabolites
|November 24, 2023
PubMed
概括

基因分析揭示了一种新的PPA1基因变异,导致轻微的先天代谢障碍. 这一发现可能解释未解决的新生儿查异常,并将细胞溶性酸盐酶1 (PPA1) 缺乏症确定为一种新的代谢疾病.

关键词:
在PPA1中,PPA1是PPA1.银河系的银河系是银河系的.银河系血病 (galactosemia) 是一种疾病.过高bilirubinemia 这种疾病.遗传代谢障碍是一种先天性代谢障碍.酸铁酸盐的使用方法

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