CEREBRAL METABOLIC CHANGES IN BIOTINIDASE DEFICIENCY

Clinical and metabolic changes ill the central nervous system are desc ribed in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metaboli c disease markers were measured in blood, cerebrospinal fluid and brai n tissue by biochemical analyses or localized magnetic resonance proto n spectroscopy. The patient improved markedly with biotin treatment. N evertheless, neurological sequelae and abnormal intracerebral lactate concentrations persisted despite normalized metabolic disease markers in extracerebral fluids. Therefore, localized in vivo measurements of intracerebral metabolites may be a valuable tool for elucidating the p athogenesis of biotinidase deficiency.