New insights for glutaric aciduria type I [2]

Brain

Volumn 129, Issue 8, 2006, Pages

  Zinnanti, William J ^a,b   Lazovic, Jelena ^a   Wolpert, Ellen B ^a   Antonetti, David A ^a   Smith, Michael B ^a   Connor, James R ^a   Woontner, Michael ^c   Goodman, Stephen I ^c   Cheng, Keith C ^b  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b PENN STATE CANCER INSTITUTE   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYGLUTARIC ACID; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

BRAIN DYSFUNCTION; BRAIN LEVEL; CELLULAR DISTRIBUTION; CEREBROSPINAL FLUID; CORPUS STRIATUM; DIETARY INTAKE; DISEASE MODEL; DISEASE PREDISPOSITION; ENZYME DEFICIENCY; GLUTARIC ACIDURIA TYPE 1; HUMAN; HUMAN VERSUS ANIMAL COMPARISON; LETTER; MEMBRANE PERMEABILITY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; DIET; DISEASE MODELS, ANIMAL; GLUTARATES; MICE;

EID: 33747884132     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl138     Document Type: Letter

References (9)

1. Goodman SI, Frerman FE. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver C, Beudet A, Sly W, Valle D. editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill; 1995. p. 2195-204.
2. Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, et al. Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet 2002; 11: 347-57.
3. Kolker S, Strauss KA, Goodman SI, Hoffmann GF, Okun JG, Koeller DM. Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004; 27: 843-9.
4. Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ. Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab 2005; 86: 337-43.
5. Leibel RL, Shih VE, Goodman SI, Bauman ML, McCabe ER, Zwerdling RG, et al. Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 1980; 30: 1163-8.
6. Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, et al. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004; 53: 221-7.
7. Sauer SW, Okun JG, Fricker G, Mahringer A, Muller I, Crnic LR, et al. 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 2006; 97: 899-910.
8. Schor DS, Verhoeven NM, Struys EA, Ten Brink HJ, Jakobs C. Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2002; 780: 199-204.
9. Zinnanti WJ, Lazovic J, Wolpert EB, Antonetti DA, Smith MB, Connor JR, et al. A diet-induced mouse model for glutaric aciduria type I. Brain 2006; 129: 899-910.