title: Unusual presentation of galactosemia in a 4-month-old child.
abstract: Galactosemia is a rare inborn error of metabolism, which if detected can be treated effectively. Galactosemia can occur due to the deficiency of either galatose-1-phosphate uridyl transferase (GLUT) or galactokinase. Both these deficiencies have their characteristic presentation. In this case report we describe a 4-month-old infant who presented with clinical symptoms highly suggestive of GLUT deficiency but on investigation turned out to be galactokinase deficiency.
authors.affiliation: Department of Biochemistry and Biophysics, St. John's National Academy of Health Sciences, Bangalore, India. justin@dnnut.net
authors.forename: J V
authors.initials: JV
authors.lastname: Gnanou
authors.forename: V G
authors.initials: VG
authors.lastname: Thykadavil
authors.forename: S
authors.initials: S
authors.lastname: Uthappa
mesh_terms: D001707:Biopsy, Needle; D003937:Diagnosis, Differential; D005686:Galactokinase / Q000172:deficiency*; D005693:Galactosemias / Q000175:diagnosis*; D006505:Hepatitis / Q000175:diagnosis*; D006801:Humans; D007194:India; D007223:Infant; D008111:Liver Function Tests; D008297:Male; D012720:Severity of Illness Index
chemical_list: D005686:Galactokinase