Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria

Neurology

Volumn 65, Issue 6, 2005, Pages 931-933

  Østergaard, Elsebet ^a   Wibrand, F ^a   Orngreen M C ^b   Vissing, J ^b   Horn, N ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ADULT; ARTICLE; CASE REPORT; ENERGY METABOLISM; ENZYME ACTIVITY; EXERCISE TEST; GENE MUTATION; HISTOLOGY; HUMAN; MALE; METHYLMALONIC ACIDURIA; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE MITOCHONDRION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SARCOLEMMA; WORK CAPACITY; WORKLOAD;

EID: 25444432363     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000176065.80560.26     Document Type: Article

References (10)

1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism: Scriver CR, Beaudet AL, Sly WS, Valle D , eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill, 2001:2165-2193.
2. Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency. Am J Med Genet 1993;45:619-624.
3. Baumgarter ER, Viardot C. Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 1995;18:138-142.
4. Acquaviva C, Benoist JF, Pereira S, et al. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat 2005;25:167-176.
5. Jeppesen TD, Schwartz M, Olsen DB, Vissing J. Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy. Ann Neurol 2003;54:86-92.
6. Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 2004;14:237-245.
7. Okun JG, Horster F, Farkas LM, et al. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 2002;277:14674-14680.
8. McLaughlin BA, Nelson D, Silver IA, et al. Methylmalonate toxicity in primary neuronal cultures. Neuroscience 1998;86:279-290.
9. Brusque AM, Borba RR, Schuck PF, et al. Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid. Neurochem Int 2002;40:593-601.
10. Kolker S, Schwab M, Horster F, et al. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 2003;278:47388-47393.