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Updated: May 9, 2025

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美国普罗酸血症患者的代谢失补偿事件:一项大型电子医疗记录数据研究

Vanja Sikirica1, Geetanjoli Banerjee2, Sue Perera2

  • 1Moderna Therapeutics, Inc., Princeton, NJ, United States of America.

Molecular genetics and metabolism
|May 1, 2025
PubMed
概括

propionic acidemia (PA) 是一种罕见的代谢障碍. 代谢失补偿事件 (MDEs) 在PA患者中很常见,特别是在幼儿和成年人中,导致死亡率增加并突出未满足的需求.

关键词:
年龄分层 年龄分层.医疗保健资源使用情况代谢中的先天性错误在此之前,我曾经在国会中担任过国会议员.代谢性失补偿事件发生.这就是为什么PA PA PA PA.普罗皮昂酸血症 普罗皮昂酸血症

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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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