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Updated: Jun 24, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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伊利诺伊州的新生儿查酸髓酶缺乏症:一个中心的经验

Rachel E Hickey1, Joshua Baker1,2

  • 1Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Journal of inherited metabolic disease
|July 12, 2024
PubMed
概括

伊利诺伊州的新生儿查酸髓酶缺乏症 (ASMD) 成功确定了有风险的婴儿. 该程序显示了高准确性,使得早期诊断这种罕见的溶酶体储存障碍.

关键词:
酸性基胺酶缺乏症这是一种lysosphingomyelin.新生儿查 新生儿查

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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...