Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism

Movement disorders in the pediatric age group are largely of the hyperkinetic type. Metal ion accumulation in the central nervous system presents predominantly with movement disorders and over time leads to psychomotor decline. Abnormalities in monoamine and amino acidergic neurotransmitter metabolism present in individuals with a combination of abnormal movements, epilepsy, and cognitive and motor delay. Detailed clinical history, careful examination, appropriate diagnostic work-up with metabolic screening, cerebrospinal fluid neurotransmitters, and targeted genetic testing help with accurate diagnosis and appropriate treatment. This article provides an overview on movement disorders present in childhood secondary to inborn errors of metal transport and neurotransmitter metabolism.