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Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges

Background: Phenylketonuria (PKU) is the most frequent inborn error in amino acid metabolism caused by a deficiency of the phenylalanine hydroxylase enzyme (PAH). If PKU is left untreated, high concentrations of phenylalanine (Phe) accumulate in the blood, leading to severe brain dysfunction, neurod...

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Detalles Bibliográficos
Autores principales: Dababneh, Safwan, Alsbou, Mohammed, Taani, Nashat, Sharkas, Ghazi, Ismael, Refqi, Maraqa, Latifeh, Nemri, Omar, Al-Jawaldeh, Hanin, Kopti, Nadeen, Atieh, Enas, Almasri, Arab
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8947754/
https://www.ncbi.nlm.nih.gov/pubmed/35327772
http://dx.doi.org/10.3390/children9030402