Metabolic causes of recurrent rhabdomyolysis

被引:39
作者
Lofberg, M [1 ]
Jankala, H
Paetau, A
Harkonen, M
Somer, H
机构
[1] Univ Helsinki, Cent Hosp, Inst Neurosci, Dept Neurol, FIN-00290 Helsinki, Finland
[2] Univ Helsinki, Cent Hosp, Dept Clin Chem, FIN-00290 Helsinki, Finland
[3] Univ Helsinki, Cent Hosp, Dept Pathol, FIN-00290 Helsinki, Finland
来源
ACTA NEUROLOGICA SCANDINAVICA | 1998年 / 98卷 / 04期
关键词
rhabdomyolysis; metabolic myopathy; enzyme defects;
D O I
10.1111/j.1600-0404.1998.tb07307.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 3 patients with muscle PHRL deficiency, 1 patient with PFK deficiency and 1 patient with evidence of phosphorylase kinase deficiency. One patient had Backer'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.
引用
收藏
页码:268 / 275
页数:8
相关论文
共 41 条
[11]   EXERCISE INTOLERANCE AND RECURRENT MYOGLOBINURIA AS THE ONLY EXPRESSION OF XP21 BECKER TYPE MUSCULAR-DYSTROPHY [J].
DORIGUZZI, C ;
PALMUCCI, L ;
MONGINI, T ;
CHIADOPIAT, L ;
RESTAGNO, G ;
FERRONE, M .
JOURNAL OF NEUROLOGY, 1993, 240 (05) :269-271
[12]  
Dubowitz V., 1985, MUSCLE BIOPSY PRACTI
[13]  
Elpeleg ON, 1997, MUSCLE NERVE, V20, P238
[14]   MYOADENYLATE DEAMINASE DEFICIENCY - NEW DISEASE OF MUSCLE [J].
FISHBEIN, WN ;
ARMBRUSTMACHER, VW ;
GRIFFIN, JL .
SCIENCE, 1978, 200 (4341) :545-548
[15]   ACUTE PERIPHERAL NEUROPATHY, RHABDOMYOLYSIS, AND SEVERE LACTIC-ACIDOSIS ASSOCIATED WITH 3243 A TO G MITOCHONDRIAL-DNA MUTATION [J].
HARA, H ;
WAKAYAMA, Y ;
KOUNO, Y ;
YAMADA, H ;
TANAKA, M ;
OZAWA, T .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1994, 57 (12) :1545-1546
[16]  
HARKONEN M, 1982, ANN CLIN RES, V14, P20
[17]  
HARKONEN M, 1968, ANN MED EXP BIOL FEN, V46, P568
[18]  
KANNO T, 1980, CLIN CHIM ACTA, V108, P267
[19]   A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria [J].
Keightley, JA ;
Hoffbuhr, KC ;
Burton, MD ;
Salas, VM ;
Johnston, WSW ;
Penn, AMW ;
Buist, NRM ;
Kennaway, NG .
NATURE GENETICS, 1996, 12 (04) :410-416
[20]   LOW SUCCINATE-DEHYDROGENASE (SDH) ACTIVITY IN A PATIENT WITH A HEREDITARY MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA [J].
LINDERHOLM, H ;
ESSENGUSTAVSSON, B ;
THORNELL, LE .
JOURNAL OF INTERNAL MEDICINE, 1990, 228 (01) :43-52