caa a22 4500 467932662 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0108-3 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0108-3 Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU) [Elektronische Daten] [A. Hvas, E. Nexo, J. Nielsen] Summary: Phenylketonuria (PKU) is caused by an autosomal recessive deficiency of the enzyme phelnylalanine hydroxylase leading to a failure to convert phenylalanine to tyrosine. To avoid irreversible neurological damage because of increased phenylalanine, treatment is instituted rapidly after birth. We examined 31 adult PKU patients living on a less protein-restricted diet. Theoretically, these PKU patients had an increased risk of developing vitamin B12 and B6 deficiency because of a limited intake of animal products. Besides laboratory tests (n = 31) we obtained clinical information (n = 30) and detailed information on food consumption (n = 28). Three-quarters of the patients had early biochemical signs of vitamin B12 deficiency. In spite of a normal folate status, 9 (29%) had a plasma homocysteine above 12 μmol/L. In accord with these findings, the food questionnaires indicated that 11 (39%) patients received less than the recommended daily vitamin B12, and 20 (71%) received less vitamin B6 than recommended. A significant association was found between reduced vitamin B12 intake and both reduced serum cobalamins (p = 0.04) and reduced serum transcobalamin saturation (p = 0.03). Eleven patients took a vitamin pill daily, and these patients had a significantly lower plasma homocysteine compared to the rest. The present study suggests that adult PKU patients were at increased risk of developing vitamin B12 deficiency, and their intake of vitamin B6 was below the recommended daily intake. In conclusion PKU patients need continuing dietary guidance throughout adult life, and considering the risks, costs and potential benefits, daily vitamin supplementation seems justified in these patients. SSIEM and Springer, 2006 Hvas A. Department of Clinical Biochemistry, SKS, Aarhus University Hospital, Aarhus, Denmark aut Nexo E. Department of Clinical Biochemistry, AS, Aarhus University Hospital, Aarhus, Denmark aut Nielsen J. Centre for PKU Treatment, John F. Kennedy Institute, Glostrup, Denmark aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 47-53 0141-8955 29:1<47 2006 29 10545 https://doi.org/10.1007/s10545-006-0108-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0108-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hvas A. Department of Clinical Biochemistry, SKS, Aarhus University Hospital, Aarhus, Denmark aut NATIONALLICENCE 700 1- Nexo E. Department of Clinical Biochemistry, AS, Aarhus University Hospital, Aarhus, Denmark aut NATIONALLICENCE 700 1- Nielsen J. Centre for PKU Treatment, John F. Kennedy Institute, Glostrup, Denmark aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 47-53 0141-8955 29:1<47 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer