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 ...