Document Detail

Metabolic causes of recurrent rhabdomyolysis.
MedLine Citation:
PMID:  9808277     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: The aim of the study was to evaluate the biochemical causes of recurrent rhabdomyolysis in Finland. MATERIAL AND METHODS: We examined 22 patients with recurrent rhabdomyolysis, and 26 patients with one episode of rhabdomyolysis or other symptoms compatible with metabolic myopathy. Muscle histopathology and activities of phosphorylase (PHRL) (total and active), phosphofructokinase (PFK), carnitine palmitoyltransferase (CPT) and myoadenylate deaminase (MAD) were studied. The limit of enzyme deficiency was defined as enzyme activity less than 5% of the mean of the control subjects. RESULTS: We found 4 patients with muscle PHRL deficiency, 1 patient with PFK deficiency and 1 patient with evidence of phosphorylase kinase deficiency. One patient had Becker's muscle dystrophy, 2 patients had unspecified dystrophies, 1 patient had Miyoshi myopathy, and 1 patient had a form of mitochondrial encephalomyopathy (MELAS). CONCLUSION: Enzyme defects were found in 23% of the patients with recurrent rhabdomyolysis. Other muscle diseases, muscular dystrophies or myopathies, were detected in 18% of these patients, emphasizing the value of clinical and histopathological examination of patients with previous rhabdomyolysis.
M Löfberg; H Jänkälä; A Paetau; M Härkönen; H Somer
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Publication Detail:
Type:  Case Reports; Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta neurologica Scandinavica     Volume:  98     ISSN:  0001-6314     ISO Abbreviation:  Acta Neurol. Scand.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-01-07     Completed Date:  1999-01-07     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0370336     Medline TA:  Acta Neurol Scand     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  268-75     Citation Subset:  IM    
Institute of Neurosciences, Department of Neurology, Helsinki University Central Hospital, Finland.
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MeSH Terms
AMP Deaminase / biosynthesis
Carnitine O-Palmitoyltransferase / biosynthesis,  deficiency
Creatine Kinase / blood
Exercise / physiology
Exercise Test
Forearm / blood supply
Ischemia / blood,  diagnosis
Middle Aged
Muscle, Skeletal / enzymology*,  pathology
Phosphofructokinase-1 / biosynthesis
Phosphorylase Kinase / biosynthesis,  deficiency
Phosphorylases / biosynthesis,  deficiency
Rhabdomyolysis / enzymology*,  etiology,  pathology
Reg. No./Substance:
EC O-Palmitoyltransferase; EC 2.4.1.-/Phosphorylases; EC; EC Kinase; EC Kinase; EC Deaminase

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