Consanguinity as a Risk Factor in the Etiology of Inborn Errors of Metabolism- An Observational Study

Abstract

Objective: The objective of the present study was to assess the practice of consanguinity among parents of individuals identified with inborn errors of metabolism. Materials and Methods:Purposive sampling was used to enroll 135 participants (82 males and 55 females)between the age groups of 0 and 50 yearsin this study. Participants were classified based on the broad diagnosis of disorders of Lysosomal storage disease and disorders affecting energy metabolism. The design of the study comprised of a cross-sectional design. A questionnaire was used to collect information pertaining to demographic, socio-economic and consanguinity status of parents of the study participants. The study was conducted over a period of three months at Mediscan Systems, Department of Genetics in a Fetal Care, Genetics and Perinatal pathology Centre, Chennai, India. Descriptive statistics was used to analyze the data. Results: 76.3 % of the study participants had been affected with Lysosomal storage disorders and 23.7% with disorders affecting energy metabolism. 89% of the participants’ parentswere found to have a history of consanguineous marriages. Out of these, 31% of the parents had married their first cousins. 32.5% of the parents belonged to the lower socio-economic strata. With respect to education, 20 % of the parents had completed their middle school education. Conclusion:In this study, a majority of the parents were found to have a consanguineous marriage. Therefore, consanguinity could also be considered important along with other risk factors in the etiology of inborn errors of metabolism.