Metabolic liver disease in developing world with special reference to Indian children – A review

Need and purpose of reviewMetabolic liver diseases (MLD) are frequently missed and hence underreported. They are responsible for significant pediatric mortality. A fair number of these patients have a potential for favorable outcome with prompt detection and management; thus increasing the awareness regarding such disorders is important. We highlight the profile of commonly encountered pediatric MLDs and available diagnostic and therapeutic facilities in the developing countries through this review.MethodsArticles published on pediatric metabolic liver diseases in India and other developing countries in the last 40 years were searched on PubMed and Google scholar using a defined selection criteria. Common and atypical presentation, diagnostic workup, treatment and outcome was specifically studied.ResultsWilson disease followed by Galactosemia, Gaucher disease, Glycogen storage disorder and Organic acidemias are the commonest conditions reported from India. Alpha1 antitrypsin deficiency which is a common condition in West, seems to be rare in India. The mutational profile of Indian children in such disorders seems to vary between different parts of country and also differs from other parts of world. Definitive diagnosis is difficult on account of limited availability of genetic testing and unaffordability in most situations.ConclusionsThe phenotypic as well as the genotypic spectrum of MLD in our subcontinent seems to differ from the rest of the developed world. Setting up of a national registry for each of these problems would be important to understand the exact prevalence of such conditions.