caa a22 4500 467932891 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20061201xx s 000 0 eng 10.1007/s10545-006-0395-8 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0395-8 Large neutral amino acids in the treatment of phenylketonuria (PKU) [Elektronische Daten] [R. Matalon, K. Michals-Matalon, G. Bhatia, E. Grechanina, P. Novikov, J. McDonald, J. Grady, S. Tyring, F. Guttler] Summary: Large neutral amino acids (LNAAs) have been used on a limited number of patients with phenylketonuria (PKU) with the purpose of decreasing the influx of phenylalanine (Phe) to the brain. In earlier studies on mice with PKU (ENU2/ENU2), LNAAs were given and a surprising decline in blood Phe concentrations was observed. The formula used in the mouse experiment (PreKUnil) lacked lysine. Therefore, a new formulation of LNAAs (NeoPhe) was developed, introducing changes in the concentration of some amino acids and adding lysine, so that such a mixture could be used in humans. The new formula was found to be effective in reducing blood Phe concentration in mice by about 50% of the elevated levels. Patients with PKU were given LNAAs and blood Phe concentrations were determined in an open-label study. Three centres—in Russia, the Ukraine and the USA—took part in the study. NeoPhe was given at 0.5 g/kg per day in three divided doses to eight subjects with PKU and at 1.0 g/kg per day to three patients, for one week. The NeoPhe resulted in decrease of elevated blood Phe by 50% in both groups. The preliminary data from this study are encouraging and a double blind placebo-controlled trial will be required to show long-term efficacy and tolerance of LNAAs in the treatment of PKU. SSIEM and Springer, 2006 Matalon R. Department of Pediatrics, University of Texas Medical Branch, Children‘s Hospital, Galveston, Texas, USA aut Michals-Matalon K. University of Houston, Houston, Texas, USA aut Bhatia G. Department of Pediatrics, University of Texas Medical Branch, Children‘s Hospital, Galveston, Texas, USA aut Grechanina E. Institute of Clinical Genetics, Kharkiv State Medical University, Kharkiv, Ukraine aut Novikov P. Department of Clinical Genetics, Institute of Pediatrics and Child Surgery, Moscow, Russia aut McDonald J. Wichita State University, Wichita, Kansas, USA aut Grady J. Department of Pediatrics, University of Texas Medical Branch, Children‘s Hospital, Galveston, Texas, USA aut Tyring S. University of Texas-Health Science Center, Houston, Texas, USA aut Guttler F. Kennedy Institute, Glostrup, Denmark aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 732-738 0141-8955 29:6<732 2006 29 10545 https://doi.org/10.1007/s10545-006-0395-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0395-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Matalon R. Department of Pediatrics, University of Texas Medical Branch, Children‘s Hospital, Galveston, Texas, USA aut NATIONALLICENCE 700 1- Michals-Matalon K. University of Houston, Houston, Texas, USA aut NATIONALLICENCE 700 1- Bhatia G. Department of Pediatrics, University of Texas Medical Branch, Children‘s Hospital, Galveston, Texas, USA aut NATIONALLICENCE 700 1- Grechanina E. Institute of Clinical Genetics, Kharkiv State Medical University, Kharkiv, Ukraine aut NATIONALLICENCE 700 1- Novikov P. Department of Clinical Genetics, Institute of Pediatrics and Child Surgery, Moscow, Russia aut NATIONALLICENCE 700 1- McDonald J. Wichita State University, Wichita, Kansas, USA aut NATIONALLICENCE 700 1- Grady J. Department of Pediatrics, University of Texas Medical Branch, Children‘s Hospital, Galveston, Texas, USA aut NATIONALLICENCE 700 1- Tyring S. University of Texas-Health Science Center, Houston, Texas, USA aut NATIONALLICENCE 700 1- Guttler F. Kennedy Institute, Glostrup, Denmark aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 732-738 0141-8955 29:6<732 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer