Publication: Metabolic disease in Nepal: A perspective
Date
2010
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
Abstract
ABSTRACT
Inborn errors of metabolism or metabolic diseases, are a group of genetically determined
metabolic disorders that result in mental retardation or early death. The prevalence of
IEM in various countries shows a prevalence varying between 1 in 800 to 1 in 5000. As
the technology for detecting metabolites has become more advanced, studies utilizing
more modern methods report a higher prevalence. There have been reports of a few
Inborn errors of metabolisms in Nepal, but studies to gauge the prevalence of these
disorders in the Nepalese population are lacking. With conflicting statistical numbers
from different sources regarding mental retardation cases in Nepalese population and
a substantial rate of consanguinity and inter caste marriages, it would be prudent to
initiate some pilot studies to estimate the prevalence of a group of disorders that can be
diagnosed through simple laboratory tests, to be followed by a screening programme
depending upon the results. The presented review discusses the need for and the
possibilities of screening for these errors for early intervention in Nepal.
Key Words
consanguinity, genetic disease, inborn errors, metabolic disease, mental retardation
Description
Arti S Pandey
Department of Biochemistry Kathmandu Medical College of Basic Sciences, Bhaktapur, Nepal