Abstract
Abstract Need and purpose of review Metabolic 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. Methods Articles 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. Results Wilson 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. Conclusions The 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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.