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@article{1308363, author = {Procházková, Dagmar and Jarkovský, Jiří and Haňková, Zdena and Konečná, Petra and Benáková, Hana and Vinohradská, Hana and Mikušková, Alena}, article_location = {Berlin}, article_number = {11-12}, doi = {http://dx.doi.org/10.1515/jpem-2014-0489}, keywords = {holotranscobalamin the active vitamin B12 hyperphenylalaninaemia phenylketonuria vitamin B12}, language = {eng}, issn = {0334-018X}, journal = {Journal of Pediatric Endocrinology and Metabolism}, title = {Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?}, volume = {28}, year = {2015} }
TY - JOUR ID - 1308363 AU - Procházková, Dagmar - Jarkovský, Jiří - Haňková, Zdena - Konečná, Petra - Benáková, Hana - Vinohradská, Hana - Mikušková, Alena PY - 2015 TI - Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? JF - Journal of Pediatric Endocrinology and Metabolism VL - 28 IS - 11-12 SP - 1327-1332 EP - 1327-1332 PB - Walter de Gruyter GMBH SN - 0334018X KW - holotranscobalamin the active vitamin B12 hyperphenylalaninaemia phenylketonuria vitamin B12 N2 - Purpose: The objective of the study was to determine the incidence of vitamin B12 deficiency in patients under longterm treatment for phenylketonuria (PKU) and hyperphenylalaninemia (HPA), as well as its associations with B12 vitamin parameters (holotranscobalamin – active vitamin B12, serum folate, total plasma homocysteine, and plasma methylmalonic acid concentration). Patients and methods: The group consisted of 51 PKU (n = 29) and HPA (n = 22) patients aged 3–48 years (28 children, 23 adults). Results: A significant difference in serum folate levels was discovered between adult HPA patients and PKU patients (p = 0.004, Mann-Whitney U-test). A significant difference in plasma homocysteine concentrations within the normal levels (p = 0.032, chi2-test) was detected between adult HPA and PKU patients. In the group of adults, we also found significant differences in serum holotranscobalamin concentrations regarding both concentration levels and the proportion of patients with concentrations within the normal levels (p = 0.031, Mann-Whitney U-test; p = 0.006, chi2-test).Conclusion: We have proven that adult patients with PKU and HPA are at risk of vitamin B12 nutritional deficiency. The most effective parameter for these adults is the monitoring of holotranscobalamin in the serum. ER -
PROCHÁZKOVÁ, Dagmar, Jiří JARKOVSKÝ, Zdena HAŇKOVÁ, Petra KONEČNÁ, Hana BENÁKOVÁ, Hana VINOHRADSKÁ and Alena MIKUŠKOVÁ. Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? \textit{Journal of Pediatric Endocrinology and Metabolism}. Berlin: Walter de Gruyter GMBH, 2015, vol.~28, 11-12, p.~1327-1332. ISSN~0334-018X. Available from: https://dx.doi.org/10.1515/jpem-2014-0489.
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