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Titolo:
PHYSIOLOGY AND PATHOPHYSIOLOGY OF ORGANIC-ACIDS IN CEREBROSPINAL-FLUID
Autore:
HOFFMANN GF; MEIERAUGENSTEIN W; STOCKLER S; SURTEES R; RATING D; NYHAN WL;
Indirizzi:
UNIV HEIDELBERG,KINDERKLIN,IM NEUENHEIMER FELD 150 W-6900 HEIDELBERG GERMANY UNIV HEIDELBERG,DEPT PEDIAT W-6900 HEIDELBERG GERMANY UNIV CALIF SAN DIEGO LA JOLLA CA 92093 GRAZ UNIV A-8010 GRAZ AUSTRIA INST CHILD HLTH LONDON WC1N 1EH ENGLAND
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 4, volume: 16, anno: 1993,
pagine: 648 - 669
SICI:
0141-8955(1993)16:4<648:PAPOOI>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLUTARIC ACIDURIA TYPE-1; BLOOD-BRAIN-BARRIER; 4-HYDROXYBUTYRIC ACIDURIA; DEHYDROGENASE-DEFICIENCY; METHYLMALONIC ACIDEMIA; QUANTITATIVE-ANALYSIS; ESTER DERIVATIVES; CHILDREN; CHROMATOGRAPHY; METABOLISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
53
Recensione:
Indirizzi per estratti:
Citazione:
G.F. Hoffmann et al., "PHYSIOLOGY AND PATHOPHYSIOLOGY OF ORGANIC-ACIDS IN CEREBROSPINAL-FLUID", Journal of inherited metabolic disease, 16(4), 1993, pp. 648-669

Abstract

Concentrations of organic acids in cerebrospinal fluid (CSF) appear to be directly dependent upon their rate of production in the brain. There is evidence that the net release of short-chain monocarboxylic acids from the brain is a major route for removing these products of cerebral metabolism. Concentrations of organic acids in blood and CSF are largely independent of each other. Quantitative reference values for the concentrations of organic acids in CSF and plasma as well as ratiosof individual organic acids between CSF and plasma were determined in35 pairs of samples from paediatric patients. Over 25 organic acids were quantifiable in all or in the majority of CSF and/or plasma specimens (limit of detection 1 mumol/L). There were substantial differencesin the CSF/plasma ratios between subgroups of organic acids. Metabolites related to fatty-acid oxidation were present in CSF in substantially less amounts than in plasma. Organic acids related to carbohydrate and energy metabolism and to amino acid degradation were present in CSF in the same amounts as or slightly smaller amounts than in plasma. Finally, some organic acids were found in substantially higher amounts in CSF than in plasma, e.g. glycolate, glycerate, 2,4-dihydroxybutyrate, citrate and isocitrate. Studies of organic acids in CSF and plasma samples are presented from patients with 'cerebral' lactic acidosis, disorders of propionate and methylmalonate metabolism, glutaryl-CoA dehydrogenase deficiency and L-2-hydroxyglutaric acidura. It became apparent that derangements of organic acids in the CSF may occur independently of the systemic metabolism. Quantitative organic acid analysis in CSF will yield new information on the pathophysiology in the central nervous system (CNS) of these disorders and may prove necessary for successful monitoring of treatment of organoacidopathies, which present mainly with neurological disease. For example, in glutaryl-CoA dehydrogenase deficiency the urinary excretion of glutarate appears to be an inadequate parameter for monitoring the effect of dietary therapy, without plasma and CSF determinations. In L-2-hydroxyglutaric aciduria theelevation Of L-2-hydroxyglutarate was found to be greater in CSF thanin plasma. In addition, some other organic acids, glycolate, glycerate, 2,4-dihydroxybutyrate, citrate and isocitrate, were also elevated in the CSF of the patients out of proportion to normal levels in plasmaand urine. High concentrations of an unknown compound, which was tentatively identified as 2,4-dihydroxyglutarate, were found in the CSF ofpatients with L-2-hydroxyglutaric aciduria. Quantitative determination of organic acids in CSF and plasma should aid the monitoring of treatment of patients with organic acid disorders, allow investigations ofmetabolites in known disorders, and detect neurometabolic diseases inwhich the diagnostic metabolites accumulate preferentially in CSF.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 17:49:44