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Large neutral amino acids in the treatment of phenylketonuria (PKU).

Abstract：

: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 (ENU(2)/ENU(2)), 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 centers--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.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Matalon R,Michals-Matalon K,Bhatia G,Grechanina E,Novikov P,McDonald JD,Grady J,Tyring SK,Guttler F

doi

10.1007/s10545-006-0395-8

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

732-8

issue

6

eissn

0141-8955

issn

1573-2665

journal_volume

29

pub_type

杂志文章,多中心研究

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