Metabolic causes of recurrent rhabdomyolysis.
OBJECTIVE
The aim of the study was to evaluate the biochemical causes of recurrent rhabdomyolysis in Finland.


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).


CONCLUSIONS
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.
Löfberg
M
M
Institute of Neurosciences, Department of Neurology, Helsinki University Central Hospital, Finland.
Jänkälä
H
H
Paetau
A
A
Härkönen
M
M
Somer
H
H
D000659:AMP Deaminase / Q000096:biosynthesis; D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000096:biosynthesis / Q000172:deficiency; D003402:Creatine Kinase / Q000097:blood; D015444:Exercise / Q000502:physiology; D005080:Exercise Test; D005260:Female; D005542:Forearm / Q000098:blood supply; D006801:Humans; D007511:Ischemia / Q000097:blood / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology; D010732:Phosphofructokinase-1 / Q000096:biosynthesis; D010764:Phosphorylase Kinase / Q000096:biosynthesis / Q000172:deficiency; D006005:Phosphorylases / Q000096:biosynthesis / Q000172:deficiency; D012008:Recurrence; D012206:Rhabdomyolysis / Q000201:enzymology* / Q000209:etiology / Q000473:pathology
D002334:Carnitine O-Palmitoyltransferase; D006005:Phosphorylases; D010732:Phosphofructokinase-1; D010764:Phosphorylase Kinase; D003402:Creatine Kinase; D000659:AMP Deaminase