1.
J Trop Pediatr
; 47(6): 372-3, 2001 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11827309
RESUMO
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.