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CNAA / Theses / 2010 / July /

Individualization of diet and of medicamentous treatment in the Phenylalanine metabolism disorders

Author: Uşurelu Natalia
Degree:doctor of medicine
Speciality: 14.00.09 - Pediatrics
Scientific consultant: Leonid Lîsîi
doctor habilitat, professor, Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova
Scientific council:


The thesis was presented on the 16 July, 2010
Approved by NCAA on the 6 October, 2010


Adobe PDF document0.64 Mb / in romanian
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phenylalanine, phenylketonuria, phenylalaninuria, amino acid, metabolism, diet


The thesis is drafted up on 120 pages, being classically divided in compartments: introduction, 4 chapters, conclusions and practical recommendations, bibliography from 181 sources, 21 annexes, includes 27 tables and 19 figures. The got results are published in 25 scientific works, including one guideline on 88 pages.

Goal of research: Elaboration of a complex program of individual therapeutic and social management of children that are suffering from Phenylalanine (Phe) metabolism disorders, including Phenylketonuria (PKU).

Objectives of research: The investigation of free amino acids spectrum in blood and urine as well as of chemical parameters to children with PKU and with Phenylalaninuria till and after application of metabolic correction measures; specification and completion of diagnosis criteria of Phenylalaninuria as persistent disorders of Phe metabolism; argumentation of drug treatment necessity for metabolism correction in the completion of specific dietetic regime; quantification of amino acids troubles and of other biochemical parameters related to the clinical manifestation; estimation of medico-social factors determined in rehabilitation of children with Phe metabolism disorders.

Scientific novelty: The amino acid spectrum analysis to children with Phe metabolism disorders shows the importance of other amino acids, except of Phe, in the intellectual development. Based on investigations results it was argued the principle of diet therapy individualization with estimation of necessary aleuronic contribution to the child with PKU. A new moment is represented by the choice of a medicamentous treatment of correction of metabolism supplemented to the low-Phe diet, based on estimation of individual peculiarities of the metabolism. The complex treatment has determined the efficiency of individual management of PKU children and reduction of their disability degree. There are proposed the stages of diet consciousness by PKU children and their integration into society. The study gives the possibility to describe the Phenylalaninuria like the persistent troubles of Phe metabolism.

Theoretical signification: The described profile of free amino acids in blood and urine and distinguished biochemical factors that influence the intellectual development in Phe metabolism disorders make the reason of individual metabolical correction in addition to low-Phe diet, conducting to a metabolic equilibrium. The maintenance of optimum proportion between metabolic constituents, especialy amino acids, determines the efficiency of treatment of children with disorders of amino acids metabolism.

Applicative value of the research: The researches bring in the possession of profile specialists an efficient program of complex treatment, taking into consideration the individuality of each patient, which are testing the diet therapy effect and are contributing to the good intellectual development of patients with Phe metabolism disorders, increasing their degree of socialization.

Implementation of scientific results: The principles proved by this research are implemented in clinic management of children with PKU and other inherited amino acids metabolic disorders in the National Health Center of Reproduction and Medical Genetics and of Scientific Research Institute in the field of Mother&Child Health Care of Ministry of Health of Republic of Moldova.