Ukraine Prof. Elena Grechanina, Kharkov Genetic & Neonatal Screening Centre Russia Prof. Peter Novikov, Moscow Central Genetic Center Denmark Flemming.

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Ukraine Prof. Elena Grechanina, Kharkov Genetic & Neonatal Screening Centre Russia Prof. Peter Novikov, Moscow Central Genetic Center Denmark Flemming Güttler, M.D., PhD., Glostrup, J. F. Kennedy Genetic Institute USA Reuben Matalon, M.D., Ph.D., Kim Matalon, the University of Texas Medical Branch

Denmark LNAA STUDY 1 tablet/kg/day Blood Samples PKU 20 PKU 39 PKU 93 PKU 105 PKU 128 Avg week

Denmark LNAA STUDY 2 tablets/kg/day Blood Samples PKU 20 PKU 39 PKU 93 PKU 105 PKU 128 Avg week

Time Phe PheTyr KAµmol/lmg/dlµmol/lmg/dl 0’ days Russia LNAA STUDY

Time Time Phe PheTyr KNµmol/lmg/dlµmol/lmg/dl0’ days Russia LNAA STUDY

Russia LNAA Study TimePheTyr KHµmol/lmg/dlµmol/lmg/dl 0’ days

USA LNAA STUDY Time Phe PheTyr GDLµmol/lmg/dlµmol/lmg/dl 0’ days days KM0’ days ’ days

USA LNAA STUDY Time Phe PheTry ESµmol/lmg/dlµmol/lmg/dl 0’ days RC0’ days

µmol/l

µmol/l

US Blood Phe and Tyr NeoPhe Patient K 1 Week µmol/L (mg) ControlNeoPhe phetyrphetyr µmol/L (mg) µmol/L (mg) (32.97) (22.6) (25.66) (21.8) (24.27) (19.1) % reduction

US Blood Phe and Tyr NeoPhe Patient G 1 Week µmol/L (mg) ControlNeoPhe phetyrphetyr mg/dl mg/dl 1560 (26.0) (15.89) (29.4) (8.43) % reduction

NeoPhe 0.5 g/kg in PKU Subjects 13 subjects 13 subjects Mean age 26.6 years Mean age 26.6 years 7 males, 6 females 7 males, 6 females Mean decrease in blood Phe after one week 243 µmol/L Mean decrease in blood Phe after one week 243 µmol/L Average decrease in blood Phe 22 %. Average decrease in blood Phe 22 %.

NeoPhe 1.0 g/kg in PKU Subjects 7 subjects 7 subjects Mean age 25.2 years Mean age 25.2 years 5 males, 2 females 5 males, 2 females Mean decrease in blood Phe after one week 377 µmol/L Mean decrease in blood Phe after one week 377 µmol/L Average decrease in blood Phe 25 %. Average decrease in blood Phe 25 %.

Figure 1. Blood Phe Response to 0.5g/kg NeoPhe in Patients with PKU Paired t-test: p=0.001

Figure 2. Blood Phe Response to 1.0 g/kg NeoPhe in Patients with PKU Paired t-test: p=0.006

CONCLUSIONS: For the first time mixture of LNAA can lower blood phenylalanine For the first time mixture of LNAA can lower blood phenylalanine Using NeoPhe avoids lysine deficiency and negative nitrogen balance Using NeoPhe avoids lysine deficiency and negative nitrogen balance NeoPhe offers new options to treat PKU NeoPhe offers new options to treat PKU Diet can be more liberal with NeoPhe Diet can be more liberal with NeoPhe Still blood phe- levels need to be controlled Still blood phe- levels need to be controlled