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Article

Recent Advances in Phenylketonuria: A Review

15 Jun 2023

Abstract excerpt

This article highlights the significance of inborn errors of metabolism and focuses specifically on phenylketonuria (PKU), a well-known inheritance disorder caused by the deficiency or absence of phenylalanine hydroxylase (PAH). This review discusses associated mutations in the PAH gene and their impact on phenylalanine metabolism. A total of 40 articles were analyzed between 2019 and 2023, covering diagnostic...

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PMID: 37456395
DOI: 10.7759/cureus.40459

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