Phenylketonuria Society was established in Iran more than 15 years ago thank to all the efforts done by a number of parents of the affected individuals, physicians, as well as subspecialists in endocrinology and metabolism, genetics, Brain, pediatric neurology, biochemistry and laboratory sciences rendering its services and supporting the Phenylketonuria affected individuals and their families.
Phenylketonuria is heritable and an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.
The PKU affected children due to their enzyme failure and disorder cannot digest and absorb a part of the protein called as phenylalanine that is an amino acid. This amino acid can be seen more or less in all foods. Without treatment of this disease, phenylalanine will be accumulated in the blood and other body tissues leading to brain damage and mental retardation. Presently, Mr. Masumi is the president of this society.