PKU

"I've met campaigners and worked hard with the APPG on PKU to ensure that people with PKU get access to the treatments and supplements they need."

As Chair of the All Party Parliamentary Group (APPG) on PKU, I have been campaigning for Kuvan to be made available in the UK.

"We are excited about taking the next step in developing this enzyme that could lead to the first orally available and convenient therapeutic option for those afflicted with PKU," said Greg Behar, chief executive officer, Nestle Health Science.

In the U.S., about 16,500 people are living with PKU and approximately 350 babies are born with it each year.

The traditional treatment for PKU is a strict low-protein diet, accompanied by shakes loaded with nutritional supplements.

Patients living with PKU require life-long management, including adherence to a challenging and severely restrictive daily diet of medical foods and formula that avoids the ingestion of Phe that is present in most foods.

A comprehensive analysis of mutations of the PAH gene in 18 western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) was performed and the results were compared with similar studies in Iran.

The need to adhere to a strict diet, frequent blood sampling to monitor the levels of Phe and regular visits to health services, can affect daily life and therefore have a negative impact on the health-related quality of life (HRQoL) of individuals affected by PKU (11-13).

This evidence supports the new paradigm for use of primarily intact protein from GMP-MF for the nutritional management of PKU [4,9].

La fenilcetonuria (PKU) es un error innato del metabolismo de la fenilalanina (Phe), clasificado dentro de las hiperfenilalaninemias (HFA), caracterizadas por presentar concentraciones de Phe en plasma mayores a 2 mg/dL.

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase that converts the essential amino acid phenylalanine (Phe) into tyrosine.

The seven-year-old, identified as S, has severe autism and phenylketonuria (PKU), which inhibits his ability to digest protein.