THE DISTURBANCE OF METABOLISM OF THE AMINO ACIDS AS A CAUSATIVE FOR THE MENTAL RETARDATION-PHENYLKETONURIA
Journal Title: Journal of Special Education and Rehabilitation - Year 2000, Vol 3, Issue 3
Abstract
PKU is the rare single-gene disease belonging to disturbance of metabolism of the amino acids, which in its own basics halved the mutated gene, whose leaning at the 12-chromosome charge for the synthesis of phenylalanine hydroxylase, turning on phenylalanine into tyrosine. Enzyme block usually leads to the accumulation of a toxic substrate and/or the deficient synthesis of a product needed for normal body function. In PKU there is a toxic accumulation of phenylalanine behind the deficient enzime, phenylalanine hydr?xylase. The symptoms are: lighten hare, blue eyes, lithe pigmented skin, convulsion, mental retardation, low level of adrenalin caused for the lack of tyrosine, the urine have a specific smell of rats or gab. Inheritance of disease become in autosomal recessive way which always become possibility to stay hidden in the family and to inherit from knee to knee without manifestation of its own phenotype. The only therapy that successfully avoids the causes of this disease is phenylalanin-restricted diet. Today we have some affords for improvement of gene therapy, which can help us for determination to these disease. The success of the therapy depends from timing of the right detection also diagnostics all trough equivalent therapy which can successfully interrupt the new forms of mental retardation and other symptoms.
Authors and Affiliations
Jasmina IVANOVSKA
Keywords
Related Articles
- EP ID EP7637
- DOI -
- Views 403
- Downloads 22
TOWARDS THE REALIZATION OF THE RESOLUSION OF THE THIRD EVALUATION FOR STRATEGY EFFECTUATION "HEALTH FOR EVERYBODY" IN THE EUROPEAN REGION (1996 1997)
DEFEKTOLO[KA TEORIJA I PRAKTIKA 171 Violeta MALINSKA-PETRU[EVSKA KON REALIZACIJATA NA REZOLUCIJATA ZA TRETATA EVALUA CIJA ZA SPROVEDUVAWE NA STRATEGIJATA "ZDRAVJE ZA SITE" VO EVROPSKIOT REGION (1996-1997) Na ^etir...
NASAL SEPTUM DEVIATION AND CONDUCTIVITY HEARING LOSS IN CHILDREN
The human respiratory system is extremely complicated and it has been extensively investigated, yet the system has not been fully recognized. Deviation of the nasal septum, which changes the airflow in this part of the...
SPECIAL EDUCATION OF CHILDREN WITH DEVELOPMENTAL DIFFICULTIES - IN THE NEWEST ENCYCLOPEDIAN DICTIONARY IN EDDITION OF "NATHAN"-PARIS, 1995
Vo najnoviot Enciklopediski re~nik za vospitanie i obrazovanie vo izdanie na "Nathan", Paris , 1995 se opfateni nekolku problemi povrzani so edukacijata i zgri`uvaweto na decata so pre~ki v o razvojot.
HOMEWORK ACCURACY TO INCREASE THE ACADEMIC REPERTOIRE OF YOUNG CHILDREN WITH AUTISM
There are many forms of interventions used to increase homework completion. However, there is far less research to assess homework accuracy for young children with special needs, and even less for young children diagnose...
CENTER FOR SOCIAL AFFAIRS AS CUSTODY IN PROTECTION OF CHILDREN WITH PSYCHO-PHYSICAL DIFFICULTIES
The center for social affairs as a custody in the frameworks of its regular activities pays special attention to the protection of children without parent care, among which there are children with physo-physical difficul...