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Updated: Dec 22, 2025

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Case 2: Mysterious Hyperkalemia in a Premature Infant of 25 Weeks' Gestation

Shabih Manzar1

  • 1Department of Pediatrics, College of Medicine, Louisiana State University of Health Sciences, Shreveport, LA.

Neoreviews
|May 3, 2020
PubMed
Abstract

No abstract available in PubMed .

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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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