A database for inborn errors of metabolism in the Indian state of Andhra Pradesh.

Shaik Abdul Latheef

doi:10.6026/97320630004276

Abstract

A Database for Inborn Errors of Metabolism (IEM) in the Indian State of Andhra Pradesh (DIEMISAP), is a continuously updated literature depository containing the extensive information on the regional prevalence and heterogeneity of Inborn Errors of metabolism. We report the construction of a database, a flat file and secondary data resource developed using Microsoft Front Page as the core engine. The database contains 18 summaries regarding 43 IEM disorders reported in the AP population, both in general and region wise, with references and links to the IEM disorder databases available on web and institutes involved in IEM research, in India. Summaries can be accessed from the reference given against an alphabetically arranged list of IEM disorders. The DIEMISAP is a useful user friendly and extendable online resource for information on prevalence of IEM in AP. http://biochem.uohyd.ernet.in.

Highlights

In India, the prevalence of Inborn errors of metabolism (IEM) is one in 2497 newborns and in Andhra Pradesh, one in 1000 newborns[1,2].Due to the improvement in health care and laboratory testing facilities in India, metabolic disorders are increasingly being recognized
Hierarchical castes and sub castes and isolated tribal groups inhabiting in the country and high level of endogamy may be responsible for wide variation in the prevalence of IEM in different regions and ethnic groups [3]
The Centre for DNA Finger printing and Diagnostics, has developed a relational database containing records of 15,000 newborns screened for IEM in Hyderabad and accessible to authorized persons in view of sensitive nature of data[7]

Summary

Introduction

In India, the prevalence of Inborn errors of metabolism (IEM) is one in 2497 newborns and in Andhra Pradesh, one in 1000 newborns[1,2].Due to the improvement in health care and laboratory testing facilities in India, metabolic disorders are increasingly being recognized. There is a perceivable need to develop a database based on region and ethnicity and to develop strategies for the prevention and management of IEM [4, 5]. The Centre for DNA Finger printing and Diagnostics, has developed a relational database containing records of 15,000 newborns screened for IEM in Hyderabad and accessible to authorized persons in view of sensitive nature of data[7].

Results

Conclusion