Peripheral Neuropathy in Inherited Metabolic Disease

摘要: Peripheral neuropathy is associated with numerous inherited metabolic diseases, such as Fabry disease (trihexosylceramide lipidosis), in which it may be the presenting complaint, or adrenomyeloneuropathy, play a relatively minor role contrast to more prominent and progressive spastic paraparesis. In mucopolysaccharidoses, represent complication of underlying storage disease, an entrapment neuropathy. This chapter describes specific disorders peripheral neuropathies are common. While biochemical molecular bases these well established, effective treatment quite elusive without therapies directed at primary defect. some cases, pharmacologic interventions helpful. The diseases separated into several categories, including amino acid fatty metabolism, mitochondrial cytopathies.