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Updated: Jun 21, 2025

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Sarah Milburn1, Vinod K Bhutani2, Andrea Weintraub1

  • 1Division of Newborn Medicine, Departments of Pediatrics.

Pediatrics
|July 11, 2024
PubMed
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纽约州 纽约州

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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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