Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

Journal of Inherited Metabolic Disease

Volumn 26, Issue 7, 2003, Pages 659-670

  Gargus, J J ^a,b   Boyle, K ^b   Bocian, M ^b   Roe, D S ^c   Vianey Saban, C ^d   Roe, C R ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; ASCORBIC ACID; BICARBONATE; CARNITINE; CITRIC ACID; DUROQUINONE; ESSENTIAL FATTY ACID; MONOCLONAL ANTIBODY; PALMITIC ACID METHYL ESTER; RIBOFLAVIN; SUCCINATE DEHYDROGENASE (UBIQUINONE); THENOYLTRIFLUOROACETONE; THIAMINE; UBIQUINONE;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL ENERGY; CLINICAL FEATURE; COMPLEX II DEFICIENCY; DIET SUPPLEMENTATION; DISEASE ASSOCIATION; ENERGY YIELD; ENZYME ACTIVITY; FACE DYSMORPHIA; FATTY ACID OXIDATION; FEMALE; FIBROBLAST; HUMAN; IN VITRO STUDY; INFANT; LACTIC ACIDOSIS; MASS SPECTROMETRY; MITOCHONDRIAL RESPIRATION; OXIDATIVE PHOSPHORYLATION; PROTEIN ANALYSIS; SIBLING;

ACIDOSIS, LACTIC; ACYL-COA DEHYDROGENASE; BEHAVIOR; BICARBONATES; CARNITINE; CELL LINE; FATTY ACIDS; FEMALE; FIBROBLASTS; GROWTH; HUMANS; INFANT, NEWBORN; LACTIC ACID; MITOCHONDRIAL DISEASES; OXIDATION-REDUCTION; OXIDATIVE PHOSPHORYLATION; PHENOTYPE;

EID: 0346888503     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000005659.52200.c1     Document Type: Article

References (26)

1. Arpa J, Campos Y, Gutierrez-Molina M, et al (1994) Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity. Acta Neurol Scand 90: 281-284.
2. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inherit Metab Dis 16: 560-562.
3. Bertrand C, Dumoulin R, Divry P, Mathieu M, Vianey-Saban C (1992) Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts. Clin Chim Acta 210: 75-91.
4. Bodemer C, Rotig A, Rustin P, et al (1999) Hair and skin disorders as signs of mitochondrial disease. Pediatrics 103: 428-433.
5. Brown-Harrison MC, Nada MA, Sprecher H, et al (1996) Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med 58: 59-65.
6. Cederbaum S, Vilain E (2000) Defects in energy metabolism: coming of age, slowly. J Pediatrics 136: 147-148.
7. Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W (1993) Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 16: 553-556.
8. Cormier-Daire V, Rustin P, Rotig A, et al (1996) Craniofacial anomalies and malformations in respiratory chain deficiency. Am J Med Genet 66: 457-463.
9. Corydon MJ, Vockley J, Rinaldo P, et al (2001) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatric Res 49: 18-23.
10. Eaton S, Turnbull DM, Bartlett K (1994) Redox control of beta-oxidation in rat liver mitochondria. Eur J Biochem 220: 671-681.
11. Enns GM, Bennett MJ, Hoppel CL, et al (2000) Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 136: 251-254.
12. Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C (1992) Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 108: 105-113.
13. Frerman FE (1987) Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. Biochim Biophys Acta 893: 161-169.
14. Geromel V, Darin N, Chretien D, et al (2002) Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab 77: 21-30.
15. Halestrap AP, Dunlop JL (1986) Intramitochondrial regulation of fatty acid beta-oxidation occurs between flavoprotein and ubiquinone. A role for changes in the matrix volume. Biochem J 239: 559-565.
16. Kodo N, Millington DS, Norwood DL, Roe CR (1990) Quantitative assay of free and total carnitine using tandem mass spectrometry. Clin Chim Acta 186: 383-390.
17. Lehnert W, Ruitenbeek W (1993) Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. J Inherit Metab Dis 16: 557-559.
18. Nagao M, Tanaka K (1992) FAD-dependent regulation of transcription, translation, post-translational processing and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation. J Biol Chem 267: 17925-17932.
19. Parker A, Engel PC (2000) Preliminary evidence for the existence of specific functional assemblies between enzymes of the β-oxidation pathway and the respiratory chain. Biochem J 345: 429-435.
20. Riggs JE, Schochet SS Jr, Fakadej AV, et al (1984) Mitochondrial encephalomyopathy with decreased succinate-cytochrome-c-reductase activity. Neurology 34: 48-53.
21. Rinaldo P, Matern D, Bennett MJ (2002) Fatty acid oxidation disorders. Annu Rev Physiol 64: 477-502.
22. Roe CR, Ding J (2001) Mitochondrial fatty acid oxidation disorders. 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, 2297-2326.
23. Roe CR, Roe DS (1999) Recent developments in the investigation of inherited metabolic disorders using cultured human cells. Mol Genet Metab 68: 243-257.
24. Vianey-Saban C, Divry P, Brivet M, et al (1998) Mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43-62.
25. Wallace DC, Lott MT, Brown MD, Kerstann K (2001) Mitochondria and neuroophthalmological diseases. 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, 2425-2509.
26. Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283: 1482-1488.