Thelansis

 Phenylketonuria (PKU) is a genetic disorder characterized by a deficiency in phenylalanine hydroxylase (PAH), resulting in impaired phenylalanine (Phe) metabolism. Most cases of PKU and hyperphenylalaninaemia (HPA) stem from mutations in the PAH gene located on chromosome 12q23.2. If left untreated, PKU leads to an abnormal phenotype, including seizures, diminished skin pigmentation, microcephaly, growth retardation, global developmental delay, and severe intellectual impairment. However, thanks to the implementation of newborn screening programs and early dietary interventions, children born with PKU can now anticipate relatively normal lives. PKU patients also have alternative treatment options, such as pharmacological treatment with BH4 (sapropterin) and enzyme substitution therapy involving Phe ammonia lyase (PAL). ·        In the United States, the reported incidence of PKU varies between 1 to 2 cases in every 20,000 newborns.   Thelan...

  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...