Metabolic Myoglobinuria

被引：7

作者：

Barca, Emanuele ^{[1
,2
,3
]}

Emmanuele, Valentina ^{[1
]}

DiMauro, Salvatore ^{[4
]}

机构：

[1] Columbia Univ, Dept Neurol, New York, NY 10027 USA

[2] Univ Messina, Dept Neurol, Messina, Italy

[3] Policlin Univ G Martino, I-98125 Messina, Italy

[4] Columbia Univ Coll Phys & Surg, Med Ctr, New York, NY 10032 USA

来源：

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS | 2015年 / 15卷 / 10期

关键词：

Muscle glycogenoses; Fatty acid oxidation (FAO); Mitochondrial myopathies; ATP shortage; Myoglobinuria treated with hydration or renal dialysis; Uncertain therapy for metabolic myopathies; MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY; LACTATE DEHYDROGENASE-A(M) DEFICIENCY; PALMITOYLTRANSFERASE-II DEFICIENCY; COENZYME Q(10) DEFICIENCY; CYTOCHROME-B GENE; MITOCHONDRIAL ENCEPHALOMYOPATHY; EXERCISE INTOLERANCE; MYOPATHIC FORM; SUCCINATE-DEHYDROGENASE; RECURRENT MYOGLOBINURIA;

D O I：

10.1007/s11910-015-0590-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, comprises metabolic disorders of two main fuels, glycogen and long-chain fatty acids, or mitochondrial diseases of the respiratory chain. Differential diagnosis is required to distinguish the three conditions, although all cause a crisis of muscle energy. Muscle biopsy may be useful when performed well after the episode of rhabdomyolysis. Molecular genetics is increasingly the diagnostic test of choice to discover the underlying genetic basis.

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页数：12

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