How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach
We propose a modern approach to assist clinicians to recognize and diagnose inborn errors of metabolism (IEMs) in adolescents and adults that present with a movement disorder. IEMs presenting in adults are still largely unexplored. These disorders receive little attention in neurological training and daily practice, and are considered complicated by many neurologists. Adult-onset presentations of IEMs differ from childhood-onset phenotypes, which may lead to considerable diagnostic delay. The identification of adult-onset phenotypes at the earliest stage of the disease is important, since early treatment may prevent or lessen further brain damage.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Lisette H. Koens, Jeroen J. de Vries, Fleur Vansenne, Tom J. de Koning, Marina A.J. Tijssen Tags: Review article Source Type: research