title: Cerebral metabolic changes in biotinidase deficiency.
abstract: Clinical and metabolic changes in the central nervous system are described in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized magnetic resonance proton spectroscopy. The patient improved markedly with biotin treatment. Nevertheless, 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 pathogenesis of biotinidase deficiency.
authors.affiliation: Department of Paediatrics, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Schürmann
authors.forename: V
authors.initials: V
authors.lastname: Engelbrecht
authors.forename: K
authors.initials: K
authors.lastname: Lohmeier
authors.forename: H G
authors.initials: HG
authors.lastname: Lenard
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: J
authors.initials: J
authors.lastname: Gärtner
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000627:therapeutic use*; D043523:Biotinidase; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D019289:Pyruvic Acid / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism; D012640:Seizures / Q000209:etiology; D014631:Valerates / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism
chemical_list: D014631:Valerates; D019344:Lactic Acid; C004961:beta-hydroxyisovaleric acid; D001710:Biotin; D019289:Pyruvic Acid; D000581:Amidohydrolases; D043523:Biotinidase