Treatment of mitochondrial cytopathies

Seminars in Neurology

Volumn 21, Issue 3, 2001, Pages 309-325

  Gold, D R ^a   Cohen, B H ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Carnitine; Coenzyme Q10; Experimental treatment; Mitochondrial encephalomyopathy

Indexed keywords

ALPHA TOCOPHEROL; ASCORBIC ACID; CARNITINE; DICHLOROACETIC ACID; FOLIC ACID; FREE RADICAL; GABAPENTIN; LAMOTRIGINE; MENADIONE; RIBOFLAVIN; SELENIUM; THIAMINE; THIOCTIC ACID; TOXIN; UBIQUINONE;

CELL ENERGY; DIET THERAPY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; EXPERIMENTATION; HUMAN; PAIN; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; SEIZURE; SYMPTOMATOLOGY; VITAMIN SUPPLEMENTATION;

EDUCATION, MEDICAL, CONTINUING; ENERGY METABOLISM; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES;

EID: 0034781114     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-17948     Document Type: Review

References (69)

1. Molecular pathology of MELAS and MERRF: The relationship between mutation load and clinical phenotypes
2. Inhalation anaesthesia and the Kearns-Sayre syndrome
3. Anaesthesia for patients with mitochondrial myopathy
4. Kearns-Sayre syndrome and pancuronium-succinylcholine-induced neuromuscular blockade
5. Perioperative white matter degeneration and death in a patient with a defect in mitochondrial oxidative phosphorylation
6. Anesthetic management for a patient with Kearns-Sayre syndrome
7. Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies
8. Anesthetic considerations in patients with mitochondrial dysfunction
9. Propofol impairment of mitochondrial respiration in isolated perfused guinea pig hearts determined by reflectant spectroscopy
10. Therapy of mitochondrial diseases
11. Effects of aerobic training in patients with mitochondrial myopathies
12. Pharmacokinetics, metabolism, and toxicology of dichloroacetate
13. Treatment of congenital lactic acidosis with dichloroacetate
14. Dichloroacetate in the treatment of lactic acidosis
15. A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults
16. 1 for lactic acidemia in children with MELAS syndrome
17. Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS
18. Improvement of lesions shown on MRI and CT scan by administration of dichloroacetate in patients with Leigh syndrome
19. Mitochondrial myopathy and cardiomyopathy in siblings
20. Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation
21. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
22. Magnetic resonance spectroscopy: Use in monitoring MELAS treatment
23. Clinical and radiologic improvements in mitochondrial encephalomyopathy following sodium dichloroacetate therapy
24. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
25. Clinical improvement after administration of coenzyme Q10 in a patient with mitochondrial encephalomyopathy
26. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome
27. Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10
28. Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
29. Coenzyme Q10 treatment in mitochondrial encephalomyopathies: Short-term double-blind, crossover study
30. 10 therapy
31. Ubidecarenone in the treatment of mitochondrial myopathies: A multi-center double-blind trial
32. Exogenous coenzyme Q (CoQ) fails to increase CoQ in skeletal muscle of two patients with mitochondrial myopathies
33. Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease
34. Phosphorous magnetic resonance spectroscopy of patients with mitochondrial cytopathies demonstrates decreased levels of brain phosphocreatine
35. 31P MRS) in neuromuscular disorders
36. Phosphorous magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: Results of a 6-month therapy study with coenzyme Q
37. 31P-MR spectroscopy in patients with mitochondrial cytopathies
38. 31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies
39. 31P-MRS study
40. Remission of Leber's hereditary optic neuropathy with idebenone
41. Mitochondrial encephalomyopathy (MELAS): Pathological study and successful therapy with coenzyme Q10 and idebenone
42. Carnitine plasma concentrations in 353 metabolically healthy children
43. Clinical and biochemical aspects of carnitine deficiency and insufficiency: Transport defects and inborn errors of beta-oxidation
44. Primary and secondary carnitine deficiency syndromes
45. Biosynthesis and metabolism of carnitine
46. Changes in mitochondrial activity caused by ammonium salts and the protective effect of carnitine
47. Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy
48. Elevation of creatine in resting and exercised muscle of normal subjects by creatine supplementation
49. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies
50. Creatine monohydrate increases strength in patients with neuromuscular disease
51. The effect of oral Cr supplementation on muscle [PCr] and short-term maximal power output
52. 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin
53. A mitochondrial myopathy in an infant with lactic acidosis
54. Treatment of complex I deficiency with riboflavin
55. NADH-CoQ reductase deficient myopathy: Successful treatment with riboflavin
56. Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine
57. Leu(URR) mutation and complex I deficiency responsive to riboflavin
58. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport
59. Deficiency of subunits of complex I and mitochondrial encephalomyopathy
60. Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome
61. Mitochondrial myopathy with cardiomyopathy, lactic acidosis: Response to prednisone and thiamine
62. Treatment of experimental NADH ubiquinone reductase deficiency with menadione
63. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
64. 31P-NMR follow-up study
65. 3 and C
66. Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate
67. The treatment of mitochondrial myopathies and encephalomyopathies
68. Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease
69. Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy