Inborn Errors of Metabolism | Top Geneticists Delhi

Inborn Errors of Metabolism | Top Geneticists Delhi 

Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that typically result from a defect in an enzyme or transport protein that results in inhibition of a metabolic pathway. Effects are caused by toxic accumulation of substrates it defects in energy production and utilization due to the reduction of products beyond the block, or a combination of these metabolic deviations. Often the central nervous system (CNS) is affected, leading to neurological diseases.

The incidence of IEM, collectively, is estimated to be as high as 1 in 800 live births, [1] but this varies greatly and depends on the population. Phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are most prevalent with associated incidences of 1 in 10,000 and 1 in 20,000

Inborn errors of metabolism are a heterogeneous group of disorders that may be inherited or result from spontaneous mutations. These diseases involve the failure of metabolic pathways involved in the breakdown or storage of carbohydrates, fatty acids, and proteins. Although any inborn error of metabolism is very rare, taken as a group, inborn errors of metabolism occur in 1 in 2500 births. They can present at any age, and therefore, awareness of these diseases, their presentations, and their evaluation are important for members of the inter-professional team. This activity describes the risk factors, assessment and management of inborn errors of metabolism and highlights the role of the inter-professional team in enhancing care delivery for affected patients.