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Title: 

ASSESSMENT OF THE PREVALENCE OF PHENYLKETONURIA AND ITS DIFFRENT FORMS IN ISFAHAN PROVINCE

Type: POSTER
Author(s): AJAMI ALI,MAZROUEI FARIBA,LAMUCHI PARVANE*,KOOHI ANAHITA
 
 *MOLECULAR LABORATORY, ISFAHAN PROVINCIAL HEALTH CENTER, ISFAHAN UNIVERSITY OF MEDICAL SCIENCES, ISFAHAN, IRAN
 
Name of Seminar: CONGRESS ON QUALITY IMPROVEMENT IN CLINICAL LABORATORIES
Type of Seminar:  CONGRESS
Sponsor:  IRANIAN ASSOCIATION OF CLINICAL LABORATORY DOCTORS
Date:  2014Volume 12
 
 
Abstract: 

BACKGROUND: PHENYLKETONURIA (PKU) IS AN INHERITED NEWBORN METABOLIC DISEASE CAUSED BY DEFICIENCY OF PHENYLALANINE HYDROXYLASE (PAH). THIS ENZYME IS NECESSARY TO METABOLIZE THE AMINO ACID PHENYLALANINE TO THE AMINO ACID TYROSINE.
PAH DEFICIENCY LEADING TO ACCUMULATION OF PHENYLALANINE IN BLOOD. UNTREATED PKU CAN LEAD TO SEVER MENTAL RETARDATION IN NEWBORNS. MATERIAL AND METHODS: BLOOD SAMPLES WERE COLLECTED ON FILTER PAPER WATMAN 903 FROM 77000 NEWBORNS IN ISFAHAN PROVINCE IN 1391-1392.

 
Keyword(s): PKU, METABOLIC, PHENYLALANINE HYDROXYLASE
 
 
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