myoglobinuria/carbohydrate

OBJECTIVE To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. BACKGROUND Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main

OBJECTIVE The major energy sources for muscle contraction are glycogen, glucose and fatty acids, and defects in their oxidative pathways cause metabolic myopathies. Eleven specific enzyme deficiencies of carbohydrate oxidation affect skeletal muscle alone or in combination with other tissues, such

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,

Of the 12 known genetic disorders of glycogen metabolism, five consistently involve the neuromuscular system. Pompe's disease is a generalized, fatal, lysosomal storage disease caused by absence of acid maltase. Structurally abnormal glycogen accumulates in Forbes-Cori and Andersen's diseases,

Carnitine palmityl-transferase (CPT) II deficiency is a rare disorder of the fatty acid beta-oxidation cycle. CPT II deficiency can be associated with rhabdomyolysis in particular conditions that increase the requirement for fatty acid oxidation, such as low-carbohydrate and high-fat diet, fasting,

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase gene (PYGM)

Introduction: Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage

A 34-year-old man presents with recurrent episodes of acute reversible muscle weakness, soreness, pain, cramps and myoglobinuria with elevated creatine kinase. Symptoms were triggered by fasting, sustained long duration exercise and viral infection. A metabolic myopathy was suspected. Genetic

Disorders of mitochondrial fatty acid oxidation are a common cause of exercise-induced rhabdomyolysis and myoglobinuria. We report three adult patients from a family with symptoms of recurrent exercise-induced rhabdomyolysis. This presentation closely resembles adult-type carnitine

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

An increasing number of cases of myopathy due to disordered lipid metabolism have recently been recognised and these appear to fall into two contrasting clinical and biochemical categories. Some patients present with steadily prograssive proximal weakness which sometimes responds to steroid therapy

BACKGROUND McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance, myoglobinuria rhabdomyolysis and acute renal failure. OBJECTIVE To review systematically the evidence from randomized controlled trials of pharmacological or

Background McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance,myoglobinuria rhabdomyolysis and acute renal failure. This is an update of a review first published in 2004.Objectives To review systematically the evidence