PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study.

Background & Aim: PTC923 (formerly CNSA-001), an oral formulation of sepiapterin, a natural precursor of intracellular tetrahydrobiopterin (BH), has been shown in humans to induce larger increases in circulating BH vs. sapropterin dihydrochloride. Sapropterin reduces blood phenylalanine (Phe) by ≥20-30% in a minority of subjects with PKU.

PREVALENCE OF PAH MUTATIONS IN GEORGIAN PKU PATIENTS COMPARED TO MOST FREQUENT PAH MUTATIONS IN EUROPEAN POPULATIONS.

The aim of the study was to compare Georgian PAH mutation spectrum to the most frequent European mutations. Population study publications were reviewed and 20 most frequent European PAH mutations were determined. Mutations were detected in 40 Georgian PKU patients using Sanger sequencing.

Child Health Care in Georgia.

We summarize the pediatric health care system in Georgia. In the 1990s, the socialist health insurance system was abandoned and replaced by a private health insurance system. In general, Georgia has a relatively high number of physicians per capita, and there are 3 times as many physicians per unit of population in Tbilisi than in other region.