Status of nutrient among Latvian children with classical phenylketonuria

Phenylketonuria (PKU) is the most common autosomal recessive genetic disorder in Europe. The main treatment in PKU is dietary treatment. Strict dietary restriction of natural phenylalanine (Phe) in the diet causes severe nutrient deficiency in PKU patients. Special Phe-free protein substitute based on L-amino acids supplemented with minerals, vitamins can reduce risk of nutrient deficiency. This is first review of Latvian PKU patients eating habits and nutrient status in the last 10 years. The aim of this study was to evaluate the nutritional status of children with PKU. 22 patients, who filled their FD and gave blood samples, were enrolled in this study. Nutritional status of PKU patients was evaluated using anthropometric measurements, 72-hour FD and biochemical markers such Selenium and Zinc. Data from FD was compared with recommendation made by Ministry of Health of the Republic of Latvia (MHRL). In 83% cases Selenium (Se) intake among patients and Se blood levels were in normal range, in 13% cases there was low Se intake, but Se blood levels were normal and in 4% cases nutrient intake was adequate, but level in blood was low. In 48% cases Zinc (Zn) intake and Zn blood levels were in normal range, in 17% cases nutrient intake was below recommendations, but blood levels were normal. In 35% cases Zn deficiency was found in patients, although Zn intake was adequate. Due to Phe-free protein substitution with micronutrients there is no significant nutrient deficiency among PKU patients in Latvia, although there is a higher risk to have zinc deficiency despite of adequate nutrient intake. We will continue to assess our PKU patients’ nutritional status.