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Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.


ABSTRACT: Inborn errors of metabolism in adults are still largely unexplored. Despite the fact that adult-onset phenotypes have been known for many years, little attention is given to these disorders in neurological practice. The adult-onset presentation differs from childhood-onset phenotypes, often leading to considerable diagnostic delay. The identification of these patients at the earliest stage of disease is important, given that early treatment may prevent or lessen further brain damage. Neurological and psychiatric symptoms occur more frequently in adult forms. Abnormalities of eye movements are also common and can be the presenting sign. Eye movement disorders can be classified as central or peripheral. Central forms are frequently observed in lysosomal storage disorders, whereas peripheral

SUBMITTER: Koens LH 

PROVIDER: S-EPMC6587951 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature