Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges

• Главные авторы: Safwan Dababneh (Автор), Mohammed Alsbou (Автор), Nashat Taani (Автор), Ghazi Sharkas (Автор), Refqi Ismael (Автор), Latifeh Maraqa (Автор), Omar Nemri (Автор), Hanin Al-Jawaldeh (Автор), Nadeen Kopti (Автор), Enas Atieh (Автор), Arab Almasri (Автор)
• Формат: ‌
• Опубликовано: MDPI AG, 2022-03-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

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...