Update and further development of the calculation of additional costs of low protein diets in children and adolescents with phenylketonuria (PKU)
- 21.01.2025
- English Articles
- Laura Seifert
- Marius Frenser
- Melanie Schumacher
- Ulrike Och
- Tobias Fischer
Peer reviewed / Manuscript (Original) submitted: 12 December 2023; revision accepted: 17 May 2024
Introduction
Phenylketonuria (PKU), formerly also known as phenylalanine hydroxylase deficiency or Fölling’s disease [1], is the most common congenital metabolic disorder screened for in newborn screenings in Germany. In 2020, 140 newborns in Germany were diagnosed with hyperphenylalaninemia, and 79 newborns were diagnosed with classic PKU. Of the 79 newborns with classic PKU, in 77 the underlying cause was phenylalanine hydroxylase (PAH) deficiency, whereas tetrahydrobiopterin (BH4) deficiency was the underlying cause in the other two (cofactor; atypical PKU) [2]. The prevalence of PKU varies globally, but in Europe it averages at around 1:10,000 [3]. According to the ICD-10 (Chapter IV, E70.0) and ICD-11 (5C50.0), PKU is a disorder of aromatic amino acid (AA) metabolism [4].
The treatment for this condition is a strict diet – especially in childhood and adolescence. This diet can prevent the negative effects of the condition. Treatment should begin immediately after diagnosis, in infancy. The diet involves restricting phenylalanine intake, which requires severe restriction of native proteins. The use of phenylalanine-free AA preparations and low-protein foods is also characteristic of the diet. The purpose of the AA preparations used is to cover daily AA requirements, especially essential AA requirements. This diet can greatly reduce the concentration of phenylalanine in the body [3, 5, 6]. ...
Abstract
Phenylketonuria (PKU) is a rare, congenital metabolic disorder in which the body is unable to break phenylalanine down into tyrosine. Elevated phenylalanine levels in the blood can lead to the accumulation of neurotoxic metabolites. Dietetic treatment can help keep blood phenylalanine levels low and prevent negative effects. The treatment is a diet that minimizes phenylalanine intake by limiting protein-rich or phenylalanine-rich foods. This creates a need for special low-phenylalanine amino acid preparations and special low-protein foods to enable patients to follow the diet on a day-to-day basis. Since health insurance companies in Germany do not cover the costs of these special low-protein foods, it can be assumed that there will be an additional cost burden for those affected. This study shows that the monthly costs of the PKU diet for children and adolescents up to and including the age of 18 can be more than twice as high as the costs of the Optimized Mixed Diet (OMD), depending on how the costs are calculated and what purchasing behavior is assumed.
