Case reports of metabolic disorders from Nepal

Abstract

BackgroundThe prevalence of metabolic disease in Nepal is largely unknown. Some consideration has been given by the nepalese government for high prevalence of congenital disorders in some populations, but disorders due to enzymatic deficiencies have not been considered as a class of diseases where timely diagnosis and intervention might be possible. No case for these disorders has been made so far, however, findings of many rare metabolic diseases have been reported in literature by the nepalese medical fraternity.MethodsA search for case reports on metabolic disorders listed according to International Classification of Diseases −11 was performed using the google search engine.ResultsA total of 443 cases have been discovered presented in the literature. This does not include disorders that might be due to lifestyle and behaviour. Most of the reported cases have been identified based on clinical acumen, radiological and histopathological findings.ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.

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“…The latter pilot suggested that CH, CF, SCD, and LSDs should be considered for screening, although specimen transport issues slowed reporting on occasion. Inclusion of these conditions is supported by case reports and reviews in the literature: a summary of case reports of metabolic conditions, which also suggests inclusion of G6PD deficiency and Wilson’s Disease [ 594 ]; and a study of Hb S/S in the Tharu population, an indigenous sub-population living in a malaria endemic area in west Nepal [ 595 ].…”

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