Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0154251 (lipid disorder)
 795 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The idiopathic paroxysmal myoglobinuric myopathy (IPMM) as a genuine disease can be differentiated from other myoglobinurias by clinical criterias. Concerning the course of the disease two different types of IPMM are to be seen, sporadic cases are observed as well as familiar, autosomal recessive inherited ones. Regarding the pathogeny of IPMM several metabolic disorders are discussed: Provocation of the disease by physical exertion and glucose deficiency point to a disturbance of carbohydrate metabolism. Disorders of lipid metabolism are reported, too. So we tried to analyse the results of a case study in relation to the presently discussed - still hypothetical - pathogenetic ideas. Our laboratory, histological and electromyographic findings suggest a primary myopathy, which might be based on a peripheral glucose utilisation disorder (ATP-deficiency). Under the condition of exertion this disorder leads to a decompensation of the muscular functional and structural metabolism manifested by an excessive efflux of myoglobin and enzymes.
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PMID:[The idiopathic paroxysmal myoglobinuric myopathy (Meyer-Betz) (author's transl)]. 24 42

Rhabdomyolysis is a disorder characterized by acute damage of the sarcolemma of the skeletal muscle leading to release of potentially toxic muscle cell components into the circulation, most notably creatine phosphokinase (CK) and myoglobin, and is frequently accompanied by myoglobinuria. Therefore, the term myoglobinuria is often used interchangeably with the term rhabdomyolysis. This disorder may result in potential life-threatening complications such as acute myoglobinuric renal failure, hyperkalemia and cardiac arrest, disseminated intravascular coagulation, and compartment syndrome. The condition is etiologically heterogeneous and may result from a large variety of diseases affecting muscle membranes, membrane ion channels, and muscle energy supply including acquired causes (e.g., exertion, crush injury and trauma, alcoholism, drugs, and toxins) and hereditary causes (e.g., disorders of carbohydrate metabolism, disorders of lipid metabolism, or diseases of the muscle associated with malignant hyperthermia). In many patients with idiopathic recurrent rhabdomyolysis, specific inherited metabolic defects have not been recognized up to now.
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PMID:[Rhabdomyolysis and myoglobinuria]. 1279 89