Genetic etiology and clinical challenges of phenylketonuria

Abstract This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. The preval...

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Principais autores:	Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara
格式:	Artigo
語言:	Inglês
出版:	BMC 2022-07-01
叢編:	Human Genomics
主題:	Phenylketonuria Phenylalanine hydroxylase Tetrahydrobiopterin Epidemiology Genetic etiology Pathophysiology
在線閱讀:	https://doi.org/10.1186/s40246-022-00398-9
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