Drug and dietary therapy in mitochondrial cytopathies of childhood;Medikamentose und diatetische Therapie der mitochondrialen Zytopathien des Kindesalters

Monatsschrift fur Kinderheilkunde

Volumn 145, Issue 1, 1997, Pages 5-19

  Wilichowski, E ^a   Korenke, G C ^a   Christen, H J ^a   Wagner, M ^a   Rating, D ^b   Hanefeld, F ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

cofactor supplementation; mitochondrial cytopathies; pyruvate dehydrogenase deficiency; respiratory chain deficiency; therapy

Indexed keywords

ASCORBIC ACID; BIOTIN; DICHLOROACETIC ACID; MENADIONE; METHYLENE BLUE; PHYTOMENADIONE; PYRUVATE DEHYDROGENASE; RIBOFLAVIN; THIAMINE; THIOCTIC ACID; UBIDECARENONE;

BRAIN DISEASE; CARDIOMYOPATHY; CHILD; CYTOPATHOLOGY; DIET; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; ENZYME DEFICIENCY; GENE THERAPY; HUMAN; PATHOGENESIS; REVIEW;

EID: 0031047102     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001120050097     Document Type: Review

References (76)

1. 31P-NMR follow-up study. Ann Neurol 19: 598-602
2. Arts WF, Scholte HR, Bogaard JM, Kerrebijn KF, Luyt-Houwen IEM (1983) NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet II: 581-582
3. Aynsley-Green A, Weindling AM, Soltesz G, ROSS B, Jenkins PA (1984) Case report: dichloroacetate in the treatment of congenital lactic acidosis. J Inherit Metab Dis 7: 26
4. Baal MG, Gabreels FJM, Renier WO, Hommes FA, Gijbers TH, Lamers KJ, Kok JC (1981) A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine. Dev Med Child Neurol 23: 521-530
5. Bachynski BN, Flynn JT, Rodrigues MM, Rosenthal S, Cullen R, Curless RG (1986) Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. Ophthalmology 93: 391-394
6. Bakker HD, Scholte HR, Jeneson JAL (1993) Vitamin E in a mitochondrial myopathy with proliferating mitochondria. Lancet 342: 175-176
7. Bakker HD, Scholte HR, Jeneson JAL, Busch HFM, Abeling NGGM, Gennip AH van (1994) Vitamin-responsive complex I deficiency in a myopathie patient with increased activity of the terminal respiratory chain and lactic acidosis. J Inherit Metab Dis 17: 196-204
8. Bernsen PLJA, Gabreels FJM, Ruitenbeek W, Hamburger HL (1993) Treatment of complex I deficiency with riboflavin. J Neurol Sci 118: 181-187
9. Bernsen PLJA, Gabreels FJM, Ruitenbeek W, Sengers RCA, Stadhouders AM, Renier WO (1991) Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol 48: 334-338
10. Braughler JM, Pregenzer JF, Chase RL, Duncan LA, Jacobsen EJ, McCall JM (1987) Novel 21-amino steroids as potent inhibitors of iron-dependent lipid peroxidation. J Biol Chem 262: 10438-10440
11. Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, Cossutta E, Binda A, Gallanti A, Gabellini S, Piccolo G, Martinuzzi A, Ciafaloni E, Arnaudo E, Liciardello L, Carenzi A, Scarlato G (1990) Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. J Neurol Sci 100: 70-78
12. Brivet M, Tardieu M, Khellaf A, Boutron A, Rocchiccioli F, Haengeli CA, Lemonnier A (1991) Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy. J Inherit Metab Dis 14: 333-337
13. Byrd DJ, Krohn H-P, Winkler L, Steinborn C, Hadam M, Brodehl J, Hunneman DH (1989) Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidemia and hyperammonaemia. Eur J Pediatr 148: 543-547
14. Campos Y, Huertas R, Lorenzo G, Bautista J, Gutierrez E, Aparicio M, Alesso L, Arenas J (1993) Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. Muscle Nerve 16: 150-153
15. Chun K, MacKay N, Petrova-Benedict R, Robinson BH (1993) Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. Hum Mol Genet 2: 449-454
16. Clayton BE, Dobbs RH, Patrick AD (1967) Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate. Arch Dis Child 42: 467-478
17. Coude FX, Saudubray JM, DeMaugre F, Marsac C, Leroux JP (1978) Dichloroacetate as treatment for congenital lactic acidosis. N Engl J Med 299: 1365-1366
18. Dabbagh O, Brismar J, Gascon GG, Ozand PT (1994) The clinical spectrum of biotin-treatable encephalopathies. Brain Dev 16: 72-80
19. DeStefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL (1995) Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 45: 1193-1198
20. DiMauro S, Moraes CT (1993) Mitochondrial encephalomyopathies. Arch Neurol 50: 1197-1208
21. Duran M, Wadman SK (1985) Thiamine-responsive inborn errors of metabolism. J Inherit Metab Dis [Suppl 1] 8: 70-75
22. 31P NMR study of improvement in oxidative phosphorylation by vitamin K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl A cad Sci USA 81: 3529-3533
23. Elpeleg DN, Barash V, De Vivo DC, Jakobs C, Ruitenbeek W, Faber J, Amir N (1995) Congenital lactic acidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. J Pediatr 126: 74-76
24. Flynn JT, Bachynski BN, Rodrigues MM, Curless RG, Joshi B (1985) Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. Trans Am Ophthalmol Soc 83: 131-161
25. 10) on muscular dystrophies and neurogenic atrophies. Biochim Biophys Acta 1271: 281-286
26. Goda S, Ishimoto S, Goto I, Kuroiwa Y, Koike K, Koike M, Nakagawa M, Reichmann H, DiMauro S (1987) Biochemical studies in mitochondrial encephalomyopathy. J Neurol Neurosurg Psychiatry 50: 1348-1352
27. Griebel V, Krägeloh-Mann I, Ruitenbeek W, Trijbels JMF, Paulus W (1990) A mitochondrial myopathy in an infant with lactic acidosis. Dev Med Child Neurol 32: 528-531
28. Harpey JP, Charpentier C, Coudé M (1986) Methylene blue for riboflavin-unresponsive glutaric aciduria type II. Lancet I: 391
29. 31P magnetic resonance and biochemical investigation. J Neurol Sci 71: 105-118
30. Hommes FA, Polman HA, Reesink JD (1968) Leigh's encephalomyelopathy: an inborn error in gluconeogenesis. Arch Dis Child 43: 423-426
31. Hoppel CL, Kerr DS, Dahms B, Roessmann U (1987) Deficiency of the reduced nicotinamid adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. J Clin Invest 80: 71-77
32. Ibel H, Endres W, Hadorn HB, Deufel T, Paetzke I, Duran M, Kennaway NG, Gibson KM (1993) Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. Fur J Pediatr 152: 665-670
33. 10 and idebenone. J Neurol Sci 90: 263-271
34. Jackson MJ, Jones DA, Edwards RHT (1985) Vitamin E and muscle diseases. J Inherit Metab Dis [Suppl 1] 8: 84-87
35. Krägeloh-Mann I, Grodd W, Niemann G, Haas G, Ruitenbeek W (1992) Assessment and therapy monitoring of Leigh syndrome by MRI and proton spectroscopy. Pediatr Neurol 8: 60-64
36. Krawiecki N, Hartlage P, Roesel A, Carter L, Hommes F (1984) Thiamine responsive lactacidemia. J Inherit Metab Dis 98: 11-12
37. Kuroda Y, Ito M, Toshima K, Takeda E, Naito E, Hwang TJ, Hashimoto T, Miyao M, Masuda M, Yamashita K, Adachi T, Suzuki Y, Nishiyama K (1986) Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate. J Inherit Metab Dis 9: 244-252
38. Lonsdale D, Faulkner WR, Price JW, Smeby RR (1969) Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria. Pediatrics 43: 1025-1034
39. Lou HC (1981) Correction of increased plasma pyruvate and plasma lactate levels using large dosis of thiamine in patients with Kearns-Sayre syndrome. Arch Neurol 38: 469
40. Luft R (1994) The development of mitochondrial medicine. Proc Natl Acad Sci USA 91:8731-8738
41. Maesaka H, Komiya K, Misugi K, Tada K (1976) Hyperalaninemia, hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver: treatment with thiamine and lipic acid. Eur J Pediatr 122: 159-168
42. Mashima Y, Hiida Y, Oguchi Y (1992) Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 340: 368-369
43. Mastaglia FL, Thompson PL, Papadimitriou JM (1980) Mitochondrial myopathy with cardiomyopathy, lactic acidosis and response to prednisone and thiamine. Aust N Z J Med 10: 660-664
44. Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI (1984) Eipoamide dehydrogenase deficiency with primary lactic acidosis: favourable response to treatment with oral lipoic acid. J Pediatr 104: 65-69
45. 10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease. Neurology 43: 884-890
46. McCormick K, Viscardi RM, Robinson B, Heininger J (1985) Partial pyruvate dehydrogenase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate. Am J Med Genet 22: 291-299
47. Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, DiMauro S, Lugaresi E, Andermann F (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38: 751-754
48. Morgan-Hughes JA (1994) Mitochondrial disorders of muscle. Curr Opin Neurol 7: 457-462
49. Morgan-Hughes JA, Hayes DJ, Clark JB, Landon DN, Swash M, Stark RJ, Rudge P (1982) Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain. Brain 105: 553-582
50. 10 in ophthalmoplegia plus. A double blind, cross-over therapeutical trial. J Neurol Sci 98: 442
51. 10 in Kearns-Sayre syndrome. Neurology 35: 372-377
52. Okabe I, Kodama H, Shimoizumi H, Kamoshita S, Miyabayashi S (1986) Treatment of lactic acidosis: effects of dichloroacetate on lactate and pyruvate levels in the cerebrospinal fluid. Eur J Pediatr 145: 159
53. Ozawa T, Tanaka M, Suzuki H, Mishikimi M (1987) Structure and function of mitochondria: their organisation and disorders. Brain Dev 9: 76-81
54. Patten BM, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984) Mitochondrial myopathy associated with abnormal lactate metabolism: response to prednisone in three patients. Neurology 26: 370-375
55. 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavine. Neurology 42: 2147-2152
56. Peterson PL (1995) The treatment of mitochondrial myopathies and encephalomyopathies. Biochim Biophys Acta 1271: 275-280
57. Przyrembel H (1987) Therapy of mitochondrial disorders. J Inherit Metab Dis 10:129-146
58. Saijo T, Naito E, Ito M, Takeda E, Hashimoto T, Kuroda Y (1991) Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS. Neuropediatrics 22: 166-167
59. Scholte HR, Busch HFM, Bakker HD, Bogaard JM, Luyt-Houwen IEM, Kuyt LP (1995) Riboflavin-responsive complex I deficiency. Biochim Biophys Acta 1271: 75-83
60. Scholte HR, Busch HFM, Luyt-Houwen VIEM (1992) Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy, and lactic acidosis. J Inherit Metab Dis 15: 331-334
61. Seibel P, Trappe J, Villani G, Klopstock T, Papa S, Reichmann H (1985) Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic Acids Res 23: 10-17
62. Shapira Y, Cererbaum SD, Cancilla PA, Nielsen D, Lippe BM (1975) Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Neurology 25: 614-621
63. Shoffner JM, Lott MT, Voljavec AS, Soudeian SA, Costigan DA, Wallace DC (1989) Spontaneous Kearns-Sayre/ chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl A cad Sci USA 86: 7952-7959
64. Shoffner JM, Wallace DC (1994) Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr 14: 535-568
65. Stacpoole PW (1989) The pharmacology of dichloroacetate. Metabolism 38: 1124-1144
66. Stacpoole PW, Harman EM, Curry SH, Baumgartner TG, Misbin RI (1983) Treatment of lactic acidosis with dichloroacetate. N Engl J Med 309: 390-396
67. Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN (1991) Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 30: 709-716
68. Tein I, De Vivo DC, Ranucci D, DiMauro S (1993) Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders. J Inherit Metab Dis 16: 135-146
69. Wijburg FA, Barth PG, Bondoff LA, Birch-Machim MA, Blif Jf van der, Ruitenbeek W, Turnbull DM, Schutgens RB (1992) Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics 23: 147-152
70. 1 oxidoreductase (complex I) deficiency: variable expression and possible treatment. J Inherit Metab Dis [Suppl 2] 12: 349-351
71. Wilichowski E (1990) Genetik der Mitochondriozytopathien. In: Siemes H (Hrsg) Mitochondriale Myopathien und Enzephalomyopathien. Zuckschwerdt, München, S 9-33
72. 10 administration. J Neurol Neurosurg Psychiatry 50: 1475-1481
73. Yoshida I, Sweetman L, Kulovich S, Nyhan WL, Robinson BH (1990) Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branchedchain keto acid dehydrogenase. Pediatr Res 27: 75-79
74. Zierz S, Jahns G, Jerusalem F (1989) Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. J Neurol 236: 97-101
75. Zierz S, Jerusalem F (1990) Therapy with coenzyme Q (CoQ) in 18 patients with ophthalmoplegia-plus. J Neurol Sci 98: 442
76. Zs-Nagy I (1990) Chemistry, toxicology, pharmacology and pharmacokinetics of idebenone: a review. Arch Gerontol Geriatr 11: 177-186