Bavdekar A.,Liver and Gastroenterology Unit |
Pawar M.,KEM Hospital
Indian Journal of Practical Pediatrics | Year: 2011
Metabolic liver diseases (MLDs) are large group of disorders occurring because of some inborn errors of metabolism affecting the liver primarily or secondarily. They may present anytime from neonatal period to adolescent age and cause significant morbidity and mortality in children. Due to their varied presentations, diagnosis and management of MLDs are always a challenge. The commonest MLDs are Wilson's disease, glycogen storage diseases and galactosemia. A strong index of suspicion is the key to early diagnosis and intervention. Recent advances in genetic studies, enzyme assays and other diagnostic tools have made it possible to reach a definitive diagnosis and initiate timely therapy for some of these disorders.