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Updated: May 8, 2025

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一个致死新生儿CPT II缺陷的案例研究:基因分析的新见解

Thi Chi Mai Tran1, Van-Thao Ta1, Thi Bao Bui2

  • 1Hanoi Medical University, 1-Ton That Tung, Dong Da, Hanoi, Viet Nam.

Molecular genetics and metabolism reports
|December 25, 2024
PubMed
概括

卡尼丁棕转移酶II (CPT II) 缺乏,一种罕见的致命新生儿形式,在一个患有两种新型CPT2基因变异的男婴中被诊断出. 这一案例突出了p.R554X变种的潜在严重性,强调了早期检测.

关键词:
在 CPT II 中存在缺陷.CPT2 CPT2 CPT2 是一个E174KK E174KKK E174KK E174KK E174KK E174KK E174KK E174KK E174K E174K E174K E174K E174K E174K E174K E174K E174K E174K E174K K致命的新生儿形式在R554XX中使用

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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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