The burden of inherited metabolic disorders in Bangladesh and current research priorities

ICNC2024
Symposia: The burden of inherited metabolic disorders in Bangladesh and current research priorities

The burden of inherited metabolic disorders in Bangladesh and current research priorities
Nazmul Hoque

Inherited metabolic disorders (IMDs) encompass a group of disorders due to defective metabolic processes. The prevalence of IMDs in Bangladesh a low income country is not well-documented due to limited diagnostic facilities and lack of awareness among healthcare professionals and the general population.However, several studies have attempted to estimate the prevalence of specific IMDs in Bangladesh for eg the prevalence of phenylketonuria (PKU), a rare metabolic disorder that affects the breakdown of the amino acid phenylalanine, to be 1 in 6,571 live births in Bangladesh. Other IMDs that have been reported in Bangladesh include maple syrup urine disease, galactosemia, and glycogen storage diseases. However, the true prevalence of these disorders and their neurological comorbidities is not well-known due to limited diagnostic facilities and the lack of a comprehensive national registry for IMDs. Overall, the prevalence of IMDs in low income countries is likely to be underestimated due to the lack of awareness and diagnostic facilities. This talk will describe the spectrum of IMDs seen, challenges faced in reaching a diagnosis, difficulties encountered in treatment and follow-up and address strategies for improving the availability and accessibility of diagnostic tests, increasing awareness among healthcare professionals and the general population, and establishing genetic and metabolic services including a national registry for IMDs with a focus on Bangladesh.