Article
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Critical reviews in eukaryotic gene expression - 1 Jan 2018
Wasim Muhammad, Awan Fazli Rabbi, Khan Haq Nawaz, Ayesha Hina
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. Among aminoacidopathies, PKU is one of the most prevalent disorders in different populations. It may be caused by deficiency of BH4 or mutations in PAH. About 98% of PKU patients have...
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