Inborn Errors of Metabolism and Brain Involvement - 5 Years Experience from a Tertiary Care Center in South India

Abstract

Inborn errors of metabolism (IEM) comprise a large group of more than 500 different rare genetic disorders. They arise due to mutations in genes encoding a single enzyme in metabolic pathways. Some of these disorders are very rare, whereas certain other disorders are more common. There are considerable racial and ethnic differences in the incidence pattern of these disorders. Aminoacidurias like phenylketonuria are common in the Western population; in Asian countries including India, organic acidurias like propionic acidurias, methyl malonic acidurias and maple syrup urine disease are more common. Clinical presentation of IEM is varied and it affects multiple organ systems, including CNS. Indeed CNS involvement is one of the most common presenting symptoms. The diseases can appear immediately after birth; or sometimes it may be delayed, even appearing in adult life.