Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare genetic metabolic disorder caused by absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine to tyrosine. Without PAH, phenylalanine builds up in the body and uncontrolled high levels may lead to significant neurological problems.
Infants with PKU typically appear normal at birth. With early screening and dietary treatment, affected individuals may never show symptoms of PKU. However, untreated newborns not diagnosed in the first days of life may be weak and feed poorly. Other symptoms may include vomiting, irritability, and/or a red skin rash with small pimples. Developmental delay may be obvious at several months of age.
Neurological symptoms including seizures, abnormal muscle movements, tight muscles, increased reflexes, involuntary movements, or tremor can be present in untreated patients.
Newborn screening blood test identifies most cases of PKU in the United States
Sapropterin (generic) powder packets and tablets
sapropterin
Sapropterin dihydrochloride is a phenylalanine hydroxylase activator indicated to reduce blood phenylalanine (Phe) levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) and is to be used in conjunction with a phenylalanine restricted diet
sapropterin tablets package insert
sapropterin powder packets package insert
Patient Resources
National Organization for Rare Disorders (NORD) supports patient advocacy, education, and research.
National PKU Alliance raises awareness for PKU and supports advocacy and education on a national level, in search of a cure.
Genetic and Rare Diseases Information Center (GARD) is a public health resource that aims to support people living with a rare disease and their families.
National PKU News provides patient facing resources, advocacy tools, and a higher education scholarship program.
