Physiology and pathophysiology of organic acids in cerebrospinal fluid

Journal of Inherited Metabolic Disease

Volumn 16, Issue 4, 1993, Pages 648-669

  Hoffmann, G F ^a,b   Meier Augenstein, W ^a   Stockler S ^c   Surtees, R ^d   Rating, D ^a   Nyhan, W L ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF GRAZ   (Austria)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRIC ACID DERIVATIVE; CARBOXYLIC ACID; CITRIC ACID; FATTY ACID; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; GLYCERIC ACID; GLYCOLIC ACID; ISOCITRIC ACID; METHYLMALONIC ACID; PROPIONIC ACID;

ADOLESCENT; BLOOD BRAIN BARRIER; BRAIN METABOLISM; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; FATTY ACID METABOLISM; FEMALE; HUMAN; INFANT; LACTIC ACIDOSIS; MALE; NEUROCHEMISTRY; NORMAL HUMAN; PATHOPHYSIOLOGY; PHYSIOLOGY; PROTEIN DEGRADATION;

AMINO ACIDS; ANIMAL; BLOOD-BRAIN BARRIER; BRAIN; CARBOXYLIC ACIDS; HUMAN; METABOLISM, INBORN ERRORS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027184507     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/BF00711898     Document Type: Article

References (53)

1. Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds
2. CT and MR studies of methylmalonic acidemia
3. l-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease
4. l-2-Hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on l-2-hydroxyacid dehydrogenase
5. Isolierter Cytochrom-C-Oxidase-Mangel im Gehirn
6. ‘Cerebral’ lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
7. Pipecolic acid pathway: The major lysine metabolic route in the rat brain
8. Organic acids in post-mortem cerebrospinal fluid
9. Medium-chain triglycerides: a pitfall in the assay of organic acids in cerebrospinal fluid
10. Changes during development in transport processes of the blood-brain barrier
11. Formation and absorption of cerebrospinal fluid in man
12. 12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin
13. N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy
14. Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid
15. The exchange of material between cerebrospinal fluid and brain
16. Biotinidase deficiency: metabolites in CSF
17. Reference values for amino acids in cerebrospinal fluid of children determined using ion-exchange chromatography with fluorimetric detection
18. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions
19. Vigabatrin therapy in a patient with succinic semialdehyde dehydrogenase deficiency
20. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria
21. Glutaric aciduria: biochemical and morphological considerations
22. Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds
23. Comparison of cytosolic and mitochondrial enzyme alteration in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity
24. O-(2,3,4,5,6-Pentafluorobenzyl)oxime-trimethylsilyl ester derivatives for quantitative gas chromatographic-mass spectrometic studies of aldehydes, ketones, and oxoacids in biological fluids
25. O-(2,3,4,5,6-Pentafluorobenzyl)oxime-trimethylsilyl ester derivatives for sensitive identification and quantitation of aldehydes, ketones, and oxoacids in biological fluids
26. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis
27. l-2-Hydroxyglutarazidurie: Eine neue Enzephalopathie mit leukodystrophen Veränderungen
28. Glutaryl-CoA dehydrogenase deficiency: A distinct encephalopathy
29. Direct analysis of tetrahydrobiopterin in cerebrospinal fluid by high-performance liquid chromatography with redox electrochemistry — Prevention of autooxidation during storage and analysis
30. The first adult case with 4-hydroxybutyric aciduria
31. Kinetic analysis of the human blood-brain barrier transport of lactate and its influence by hypercapnia
32. Quantitative analysis of polyols in human plasma and cerebrospinal fluid
33. Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis
34. Gammahydroxybutyrate: An endogenous regulator of energy metabolism
35. Conversation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-CoA dehydrogenase
36. Freie Fettsäuren und Kohlenwasserstoffe im Liquor cerebrospinalis
37. Nonketotic hyperglycinemia
38. Carrier-mediated blood-brain barrier transport of short-chain monocarboxylic organic acids
39. Organic acidurias: A review
40. Permeability changes in the blood-brain barrier: Causes and consequences
41. Distribution of drugs between blood and cerebrospinal fluid: general methodology and effect of pH gradients
42. Significance of bound glutarate in the diagnosis of glutaric aciduria type I
43. Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS
44. Adult-onset chorea and dementia with propionic acidemia
45. Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency
46. Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria?
47. Organic acid analysis
48. Spectrum of total fatty acids in cerebrospinal fluid determined by gas chromatography
49. Lactate in CSF in relation to brain and blood