Current Landscape of Inherited Metabolic Disorders in Sri Lanka

Sri Lanka is a lower–middle-income country in South Asia with a total land area of 65,610 km² and a population of approximately 22 million. The population is ethnically diverse, comprising 74% Sinhalese, 15.4% Tamils, and 9.2% Muslims, with the major religions being Buddhism (70.2%), Hinduism (12.6%), Islam (9.7%), and Catholicism (7.4%).

The country provides free healthcare for all citizens, encompassing both curative and preventive services. The government sector accounts for about 95% of inpatient and 50% of outpatient healthcare, complemented by a parallel private sector.

The Sri Lanka College of Paediatricians (SLCP), the main professional body for paediatricians, currently has more than 800 members, with over 400 paediatricians serving in the government sector. Subspecialties available in paediatrics include neonatology, cardiology, neurology, nephrology, pulmonology, intensive care, endocrinology, community paediatrics, and clinical genetics. However, paediatric gastroenterology, hepatology, rheumatology, allergy and immunology, and inherited metabolic disorders are not yet established as independent specialties.

Inherited Metabolic Disorders (IMDs) in Sri Lanka

Inherited Metabolic Disorders (IMDs) remain under-recognized and underdiagnosed in Sri Lanka. The country does not have a national expanded newborn screening programme, as tandem mass spectrometry (MS/MS) facilities are not yet available. Consequently, most children with IMDs are identified only after symptom onset or through family screening of affected siblings.

Due to the absence of standard diagnostic and therapeutic facilities, genetic confirmation is not routinely accessible, and enzyme replacement therapies (ERTs) are generally unavailable. As a result, management is largely supportive, focusing on symptom control and dietary interventions. Children are typically managed by paediatric neurologists, endocrinologists, paediatric clinical geneticists or general paediatricians, depending on the primary organ involvement, as there are no trained metabolic paediatricians in the country.

The pattern of IMDs in Sri Lanka appears to differ from that of Western populations. Disorders such as phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCAD) are exceedingly rare, whereas organic acidemias, homocystinuria, and mucopolysaccharidoses (MPS) are relatively more common. There is currently no national registry or epidemiological data on the incidence and prevalence of IMDs in Sri Lanka.

In recent years, Sri Lanka has established collaborations with several international charity organizations and research groups to improve the diagnostic and therapeutic care of children with metabolic disorders. These partnerships represent a significant step toward developing a structured framework for IMD care and enhancing capacity building in this underdeveloped subspecialty.

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