Supporting Data docx 34KB

Genotypic phenotypic charecteristics of galactosemia in postneonatal age in western India

Objective: 1.To identify clinical characteristics of galactosemia in post neonatal age in Western India 2.To identify the effect of galactose free diet on late diagnosis on neurodevelopment 3.To study the genotypic characteristics in Western India

Methods : Inclusion criteria Outdoor patients with neonatal jaundice in absence of Conventional etiology who presented with delayed development, movement disorders, speech delay or neurobehavioral disorders

Exclusion criteria Delayed development with obvious etiologies All patient in study were screened for galactosemia using Butler’s screening test for galactosemia 21 diagnosed patients underwent quantitative test For GALT enzyme and their isozymes. They were followed up for one year or more with Galactose free diet. 14/21 were tested by sending DNA samples To UTAH,USA.

Results: Table. 1 as attached in supplementary data

Conclusion: Identification of galactosemia at postneonatal age does not help in improving neurodevelopment even with strict galactose free diet. All neonatal jaundice in absence of obvious etiology has to be screened for galactosemia as a treatable metabolic disorder. Newborn screening must be compulsory in developing country like India.
Keywords: Galactosemia,Delayed diagnosis,Neurodevelopment