Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review

Abstract Background Phenylketonuria (PKU) is a rare condition that causes the accumulation of phenylalanine; without prompt diagnosis and treatment following birth, severe neurologic and cognitive impairments occur. While dietary management can help reduce Phe levels, adherence is challenging and de...

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Main Authors: Fiona O’Sullivan, Ioannis Tomazos, Francjan J. van Spronsen, Shelagh M. Szabo, Maanasa Venkataraman, Lavanya Huria, Neil Smith, Lachlan Molony, Kim Ingalls, Kathleen Somera-Molina, Rongrong Zhang, Cary O. Harding
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03830-0
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