Inborn errors of metabolism in adults: A diagnostic approach to neurological and psychiatric presentations

Abstract

Late-onset forms of IEM presenting initially in adulthood are often unrecognised, so that their exact prevalence is unknown. Most often they have psychiatric or neurological manifestations, including atypical psychosis or depression, unexplained coma, peripheral neuropathy, cerebellar ataxia, spastic paraparesis, dementia, movement disorders and epilepsy [1–3].