caa a22 4500 467932883 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20061201xx s 000 0 eng 10.1007/s10545-006-0415-8 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0415-8 The aetiology of neurological complications of organic acidaemias—A role for the blood-brain barrier [Elektronische Daten] [S. Kölker, S. Sauer, R. Surtees, J. Leonard] Summary: The blood-brain barrier (BBB) metabolically isolates the central nervous system (CNS) from the circulation and protects it against fluctuations of hydrophilic nutrients in plasma and from intoxication. Recent studies have shown that dicarboxylic acids (DCAs) are transported across the blood-brain barrier at very low rates. In organic acidaemias, neurological complications are common. We hypothesize that, as a result of the very limited efflux, in certain organic acidaemias there is pathological accumulation of DCAs (e.g. glutarate, 3-hydroxyglutarate, D-2- and L-2-hydroxyglutarate, methylmalonate) in the brain secondary to the metabolic block. At high concentrations some of these compounds may become neurotoxic. Treatment should be aimed at preventing the accumulation of these compounds using our understanding of the properties of the BBB. SSIEM and Springer, 2006 Kölker S. Department of General Paediatrics, Division of Inborn Metabolic Diseases, Universitatskinderklinik Heidelberg, Germany aut Sauer S. Department of General Paediatrics, Division of Inborn Metabolic Diseases, Universitatskinderklinik Heidelberg, Germany aut Surtees R. Department of Neurosciences, Institute of Child Health, London, UK aut Leonard J. Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 701-704 0141-8955 29:6<701 2006 29 10545 https://doi.org/10.1007/s10545-006-0415-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0415-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kölker S. Department of General Paediatrics, Division of Inborn Metabolic Diseases, Universitatskinderklinik Heidelberg, Germany aut NATIONALLICENCE 700 1- Sauer S. Department of General Paediatrics, Division of Inborn Metabolic Diseases, Universitatskinderklinik Heidelberg, Germany aut NATIONALLICENCE 700 1- Surtees R. Department of Neurosciences, Institute of Child Health, London, UK aut NATIONALLICENCE 700 1- Leonard J. Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 701-704 0141-8955 29:6<701 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer