Cerebral metabolic changes in biotinidase deficiency

Journal of Inherited Metabolic Disease
M SchürmannJ Gärtner

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.

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Citations

Dec 12, 2012·Journal of Child Neurology·Deepa KrishnakumarAlasdair P J Parker
Jul 23, 2008·Journal of Child Neurology·Aziza K ChedrawiBarry Wolf
Jun 11, 2009·AJNR. American Journal of Neuroradiology·J P Soares-FernandesA J Barkovich
Jun 24, 2011·Molecular Genetics and Metabolism·Barry Wolf

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