Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

Neuromuscular Disorders

Volumn 22, Issue 2, 2012, Pages 159-161

  Sugai, Fuminobu ^a   Baba, Kousuke ^a   Toyooka, Keiko ^b   Liang, Wen Chen ^c   Nishino, Ichizo ^c   Yamadera, Misaki ^d   Sumi, Hisae ^d   Fujimura, Harutoshi ^b   Nishikawa, Yoshiro ^a  

^a Otemae Hospital   (Japan)

^b TONEYAMA NATIONAL HOSPITAL   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Electron transfer flavoprotein dehydrogenase; Isoenzyme; Lactate dehydrogenase; Multiple acyl CoA dehydrogenation deficiency; Riboflavin

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CREATINE KINASE; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; LACTATE DEHYDROGENASE 1; LACTATE DEHYDROGENASE 2; LACTATE DEHYDROGENASE 5; LACTATE DEHYDROGENASE ISOENZYME; OXIDOREDUCTASE; RIBOFLAVIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARBOHYDRATE DIET; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DETERIORATION; DIET RESTRICTION; ETFDH GENE; EXERCISE TOLERANCE; FATIGUE; GENE; HETEROZYGOSITY; HIP; HUMAN; HUMAN TISSUE; LACTATE DEHYDROGENASE BLOOD LEVEL; MALE; MISSENSE MUTATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; THIGH; VOMITING; WALKING DIFFICULTY;

ADULT; HUMANS; ISOENZYMES; L-LACTATE DEHYDROGENASE; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; RIBOFLAVIN;

EID: 84856318043     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.08.004     Document Type: Article

References (11)

1. Gempel K., Topaloglu H., Talim B., et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenases (ETFDH) gene. Brain 2007, 130:2037-2044.
2. Olsen R.K., Olpin S.E., Andresen B.S., et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007, 130:2045-2054.
3. Ohkuma A., Noguchi S., Sugie H., et al. Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve 2009, 39:333-342.
4. 10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 2009, 19:212-216.
5. Bruno C., DiMauro S. Lipid storage myopathies. Curr Opin Neurol 2008, 21:601-606.
6. Moses G.C., Henderson A.R. Increased serum lactate dehydrogenase isoenzyme 1 and " flipped" LD-1/LD-2 ratio in myopathy associated with partial carnitine palmitoyltransferase deficiency. Clin Chem 1987, 33:2111-2113.
7. Kanno T., Sudo K., Takeuchi I., et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta 1980, 108:267-276.
8. Markert C.L. Lactate dehydrogenase isozymes: dissociation and recombination of subunits. Science 1963, 140:1329.
9. Ishizawa T., Mitsuhashi Y., Kondo S. Dermatomyositis associated with testicular tumour with elevation of serum lactate dehydrogenase (LDH) isoenzyme-1. Acta Derm Venereol 1999, 79:167.
10. Van Wijhe M., Blanchaer M.C., St.George-Stubbs S. The distribution of lactate dehydrogenase isozymes in human skeletal muscle fibers. J Histochem Cytochem 1964, 12:608-614.
11. Gibson J.N., Halliday D., Morrison W.L., et al. Decrease in human quadriceps muscle protein turnover consequent upon leg immobilization. Clin Sci (Lond) 1987, 72:503-509.