Thelansis

  Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated with an abnormal phenotype, including seizures, poor skin pigmentation, microcephaly, growth failure, global developmental delay and severe intellectual impairment. However, since the introduction of newborn screening programs and early dietary intervention, children born with PKU can now expect to lead relatively normal lives. Pharmacological treatment with BH4 (sapropterin) and enzyme substitution therapy with Phe ammonia lyase (PAL) provide alternative treatment options for PKU patients. In the United States, the reported incidence of PKU varies between 1 to 2 cases in every 20,000 newborns. Thelansis’s “Phenylketonuria (PKU) Market Outlook, Epidemiology, Competitive Lan...