Piam News

A disease or disorder is defined as ‘rare’ in Europe when it affects less than 1 in 2,000 individuals. There are more than 6,000 rare diseases, 80% of which are of genetic origin and are often chronic and very serious; they not only affect the person diagnosed with the disease, but also have an impact...

Phenylalanine (Phe) hydroxylase (PAH) deficiency leads to hyperphenylalaninemia (HPA) and tyrosine (Tyr) depletion. The study investigates Tyr homeostasis in patients with PAH deficiency and the effect of a slow-release amino acids therapy in phenylketonuria (PKU). Four complementary investigations were performed: (1) Tyr concentrations were monitored in 114 patients (10.6 ± 11.9 years) with PKU on...

“PKU TALKS: THE EXPERT’S VOICE” is the periodical column on Phenylketonuria, created by Piam in collaboration with some of the major international specialists.

“PKU TALKS: THE EXPERT’S VOICE” is the periodical column on Phenylketonuria, created by Piam in collaboration with some of the major international specialists.

“PKU TALKS: THE EXPERT’S VOICE” is the periodical column on Phenylketonuria, created by Piam in collaboration with some of the major international specialists.

“PKU TALKS: THE EXPERT’S VOICE” is the periodical column on Phenylketonuria, created by Piam in collaboration with some of the major international specialists.