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

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 phenylalan...

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Detalles Bibliográficos
Autores principales: Alghamdi, Malak Ali, O'Donnell‐Luria, Anne, Almontashiri, Naif A., AlAali, Wajeih Y., Ali, Hebatallah H., Levy, Harvey L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494492/
https://www.ncbi.nlm.nih.gov/pubmed/37701331
http://dx.doi.org/10.1002/jmd2.12384

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494492/
https://www.ncbi.nlm.nih.gov/pubmed/37701331
http://dx.doi.org/10.1002/jmd2.12384

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