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在PMM2-CDG中复杂的代谢不和为新的治疗方法铺平了道路

Nastassja Himmelreich1, Frauke Kikul2, Lucie Zdrazilova3

  • 1Centre for Child and Adolescent Medicine, Department I, Heidelberg University, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany.

Molecular genetics and metabolism
|May 28, 2023
PubMed
概括

这项研究揭示了PMM2-CDG患者的广泛代谢异常,影响了甲,氨基酸,脂质和溶酶体功能,影响了细胞通路,并为这种常见的先天性糖化乱提出了新的治疗策略.

关键词:
这是CDG-Ia.葡萄糖化先天性疾病纤维细胞细胞.欧米克斯 (OMICS) 是一种有机物.这就是PMM2-CDG.治疗的想法治疗的想法.

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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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