Treatment for adult metabolic patients is insufficient

gregor.hammerschmidtAnnouncements

An increasing adult PKU population requires urgent action to avert a severe treatment crisis In Europe, neonatal screening for Phenylketonuria (PKU) has been introduced over a period of 50 years between 1964 (Belgium) and 2015 (Finland). Until the early 1990s, PKU was known as a paediatric disease. Thanks to timely diagnosis and efficient treatment options, patients have a normal life expectancy. However, the treatment of adults is still neglected even in those countries with the longest screening history. Healthcare systems are not adequately prepared for increasing patient numbers. More and more adult patients lack access to age-appropriate treatment in metabolic …

Pegvaliase (PalynzigTM) has been approved

gregor.hammerschmidtScientific Advisory Committee

Fresh from the Press: Pegvaliase (now called PalynzigTM) has been approved by the FDA for use in adult PKU patients in the USA with phenylalanine > 600 micromol/l. Francjan J van Spronsen, Maria Gizewska, Anita MacDonald, Kirsten Ahring Why is a different treatment needed? ‘You are not lucky when you have PKU’ I explained to a colleague. He replied “Why? What you’ve always told me is that when left untreated, patients with PKU have severe developmental disability, epilepsy, and difficult behavioural issues. Now they lead an almost normal life by following a diet. This does not seem too bad a …

European Guidelines for Phenylketonuria Published

gregor.hammerschmidtAnnouncements, Publications

The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is very happy to announce that the European Guidelines for Phenylketonuria have been published in The Lancet Diabetes & Endocrinology. Getting to this point has taken many years of preparation. First in the line was the publication of Closing Gaps in Care. This showed the great need for European Guidelines. Treatment for Phenylketonuria is very different in Europe although it’s always the same disease. After the publication of Closing Gaps in Care the delegates of the E.S.PKU published the Consensus Paper in Orphanet Journal of Rare Diseases. This voices the patients need …

Review of EU legislation on dietary food

gregor.hammerschmidtGeneral

Review of EU legislation on dietary food could mean a significant backward step for the treatment and management of Phenylketonuria (PKU) On March 28th, 2105 the Spring Meeting of the European Society for Phenylketonuria and Allied Disorders took place in Berlin, Germany. 24 delegates from 13 national PKU Associations took part and discussed the latest political developments. PKU patients have to follow a strict low protein diet supplemented by an amino acid replacement. They have to calculate the intake of Phenylalanine to avoid any health problems related to the disease. Therefore quantitative labelling of Phenylalanine is crucial for their daily …