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Updated: Jun 6, 2025

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在患有基尿症的成年人中,高氨暴露4周后,可逆的白质变化

Raphaela Muri1,2,3, Murray Bruce Reed4,5, Stephanie Maissen-Abgottspon1,3

  • 1Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.

Journal of inherited metabolic disease
|November 27, 2024
PubMed
概括

高氨酸 (Phe) 水平暂时改变了白质 (WM) 微观结构,在患有基uria (PKU) 的成年人中. 这些大脑变化是可逆的,对认知功能没有影响.

关键词:
这是一个PKU PKU.大脑的白质是大脑中的白质.认知 认知 认知氨干预的干预措施一个随机的安慰剂受控试验.可逆性的可逆性

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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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