Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development results from the neurotoxic effects of excessive p...

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Bibliographic Details
Main Authors: Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:JIMD Reports
Subjects:
maternal PKU syndrome
neonatal deaths
phenylalanine hydroxylase
recurrent pregnancy loss
variable expressivity
Online Access:https://doi.org/10.1002/jmd2.12384

Internet

https://doi.org/10.1002/jmd2.12384

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