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使用二级遗传测试对新生儿进行初级卡尼缺乏症的查

Yiming Lin1, Chunmei Lin1, Zhenzhu Zheng1

  • 1Department of Clinical Laboratory, Quanzhou Maternity and Children's Hospital, Quanzhou, Fujian Province, P.R. China.

Journal of pediatric endocrinology & metabolism : JPEM
|December 30, 2023
PubMed
概括

这项研究通过调整自由卡尼丁 (C0) 切断值并使用一种新的MALDI-TOF MS测定来改善初级卡尼丁缺乏症 (PCD) 的新生儿查. 改进的基因查策略增加了PCD的检测和诊断率.

关键词:
免费的卡尼丁是什么意思矩阵辅助激光脱吸/电离-飞行质谱的时间.新生儿查 新生儿查主要的卡尼丁缺乏症.第二层查是第二层查.

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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