title: [Biological assay for galactose-1 phosphate measurement application in subjects with galactosemia].
abstract: Congenital galactosemia is a hereditary, autosomal recessive and metabolic disease. It is linked to an enzyme deficiency, more commonly known by the deficiency of galactose-1- phosphate uridyltransferase (GALT), which is responsible for an accumulation of galactose-1- phosphate in the blood. Clinical symptoms appear early in infancy from the second week of life. They generally manifested by some disorders within liver, kidney, eye, gastrointestinal, neurological and also with cataracts. Currently, the clinical diagnosis remains difficult hence the importance of further investigations based on effective biological assessments to highlight the disease. The diagnosis of galactosemia is made by the laboratory test. The latter includes the determination of Gal-1-P which is done by a fluorometric method spot test. This study was conducted in order to assess the repeatability, reproducibility, accuracy, and effectiveness of the techniques used. We have found the CV for a repeatability (CV = 5 %), reproducibility (CV = 4 %) which confirms the accuracy of the method proceeded in this study. This method allows us to have a degree of inaccuracy less than 1%. According to the study of the effectiveness of "spot test", we found that our technique is specific (Sp = 93 %) and sensitive (Se = 83 %).
authors.affiliation: Département de biochimie, Faculté de médecine, Sousse, Tunisie. imenebraham@yahoo.fr
authors.forename: Imene
authors.initials: I
authors.lastname: Braham
authors.forename: Bassem
authors.initials: B
authors.lastname: Charfeddine
authors.forename: Leila
authors.initials: L
authors.lastname: Ben Othmene
authors.forename: Souhir
authors.initials: S
authors.lastname: Neffati
authors.forename: Aida
authors.initials: A
authors.lastname: Mtar
authors.forename: Jihene
authors.initials: J
authors.lastname: Ben Abdallah
authors.forename: Med
authors.initials: M
authors.lastname: Ali Smach
authors.forename: Hedi
authors.initials: H
authors.lastname: Dridi
authors.forename: Khalifa
authors.initials: K
authors.lastname: Limem
mesh_terms: D001681:Biological Assay / Q000379:methods*; D001774:Blood Chemical Analysis / Q000379:methods; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003940:Diagnostic Techniques, Endocrine; D004526:Efficiency; D004704:Endocrinology / Q000379:methods; D005260:Female; D005693:Galactosemias / Q000097:blood / Q000175:diagnosis*; D005695:Galactosephosphates / Q000032:analysis*; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D005695:Galactosephosphates; C029973:galactose-1-phosphate