The aetiology of neurological complications of organic acidaemias - A role for the blood-brain barrier

Journal of Inherited Metabolic Disease

Volumn 29, Issue 6, 2006, Pages 701-704

  Kolker S ^a   Sauer, S W ^a   Surtees, R A H ^b   Leonard, J V ^b,c  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NONE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; 4 PHENYLBUTYRIC ACID; AMINO ACID; ARGININE; BENZOIC ACID; DICARBOXYLIC ACID; GLUTARIC ACID DERIVATIVE; METHYLMALONIC ACID;

ACIDEMIA; ARTICLE; BLOOD ANALYSIS; BLOOD BRAIN BARRIER; BRAIN CIRCULATION; CENTRAL NERVOUS SYSTEM; CONCENTRATION (PARAMETERS); DIET SUPPLEMENTATION; DIET THERAPY; DRUG SUBSTITUTION; HUMAN; HYDROPHILICITY; HYPOTHESIS; NEUROLOGIC DISEASE; NEUROTOXICITY; NONHUMAN; NUTRIENT; PATHOGENESIS; PROTEIN RESTRICTION; TISSUE DISTRIBUTION;

ANIMALS; BIOLOGICAL TRANSPORT; BLOOD-BRAIN BARRIER; BRAIN; CENTRAL NERVOUS SYSTEM; HUMANS; METABOLISM, INBORN ERRORS; NERVOUS SYSTEM DISEASES; ORGANIC ANION TRANSPORTERS;

EID: 33751051820     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0415-8     Document Type: Article

References (30)

1. Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF (1999) Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22: 867-881.
2. Barth P, Hoffmann GF, Jaeken J, et al (1992) L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol 32: 66-71.
3. Brusilow SW (2001) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1909-1963.
4. Busquets C, Merinero B, Christensen E, et al (2000) Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically and biochemically distinct. Pediatr Res 48: 315-322.
5. Funk CB, Prasad AN, Frosk P, et al (2005) Neuropathological, biochemical, and molecular findings in a glutaric acidemia type 1 cohort. Brain 128: 711-722.
6. Gerrits GP, Gabreels FJ, Monnens LA, et al (1993) Argininosuccinic aciduria: Clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Neuropediatrics 24: 15-18.
7. Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria: Biochemical and morphological considerations. J Pediatr 90: 746-750.
8. Hassel B, Brathe A, Petersen DJ (2002) Cerebral dicarboxylate transport and metabolism studied with isotopically labelled fumarate, malate and malonate. J Neurochem 82: 410-419.
9. Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan WL (1993) Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis 16: 648-669.
10. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D (1994) Neurological manifestations of organic acid disorders. Eur J Pediatr 153 (Supplement 1): S94-S100.
11. Hoffmann GF, Athanassopoulos S, Burlina AB, et al (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115-123.
12. Hümer M, Muehl A, Wandl-Vergesslich K, Strobl W, Wanders RJ, Stoeckler-Ipsiroglu S (1998) Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Eur J Pediatr 157: 743-746.
13. Kölker S, Pawlak V, Ahlemeyer B, et al (2002) NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in D-2-hydroxyglutaric aciduria. Eur J Neurosci 16: 21-28.
14. Kölker S, Koeller DM, Okun JG, Hoffmann GF (2004) Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 55: 7-12.
15. Kölker S, Garbade SF, Greenberg CR, et al (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59: 840-847.
16. Külkens S, Harting I, Sauer S, et al (2005) Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 64: 2142-2144.
17. McLaughlin BA, Nelson D, Silver IA, Erecinska M, Chesselet MF (1998) Methylmalonate toxicity in primary neuronal cultures. Neuroscience 86: 279-290.
18. Mühlhausen C, Ott N, Chalajour F, et al (2006) Endothelial effects of 3-hydroxyglutaric acid: Implications for glutaric aciduria type I. Pediatr Res 59: 196-202.
19. Nicolaides P, Leonard JV, Surtees R (1998) Neurological outcome of methylmalonic acidaemia. Arch Dis Child 78: 508-512.
20. Pietz J, Kreis R, Rupp A, et al (1999) Large neutral amino acids block phenylalanine transport into the brain in patients with phenylketonuria. J Clin Invest 103: 1169-1178.
21. Saudubray JM, Touati G, de Lonlay P, et al (1999) Liver transplantation in urea cycle disorders. Eur J Pediatr 158 (Supplement 2): S55-S59.
22. Sauer SW, Okun JG, Schwab MA, et al (2005) Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency, a role for glutaryl-coenzyme A. J Biol Chem 280: 21830-21836.
23. Sauer SW, Okun JG, Fricker G, et al (2006) Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood - brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl CoA dehydrogenase deficiency. J Neurochem 97: 899-910.
24. Stone TW (2001) Kynurenines in the CNS: From endogenous obscurity to therapeutic importance. Prog Neurobiol 64: 185-218.
25. Stone TW, Perkins MN (1981) Quinolinic acid: A potent endogenous excitant at amino acid receptors in CNS. Eur J Pharm 72: 411-412.
26. Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: Natural history of 77 patients. Am J Med Genet C Semin Med Genet 121: 38-52.
27. Tamai I, Tsuji A (2000) Transporter-mediated permeation of drugs across the blood - brain barrier. J Pharm Sci 89: 1371-1388.
28. Varadkar S, Surtees R (2004) Glutaric aciduria type 1 and kynurenine pathway metabolites: A modified hypothesis. J Inherit Metab Dis 27: 835-842.
29. Yodoya E, Wada M, Shimada A, et al (2006) Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons. J Neurochem 97: 162-173.
30. Zinnanti WH, Lazovic J, Wolpert EB, et al (2006) A diet-induced mouse model for glutaric aciduria type I. Brain 129: 899-910.