myoglobinuria/fatigue

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Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.

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Mitochondrial myopathies commonly present with exercise intolerance typified by breathlessness and fatigue on exercise. In contrast, exercise-induced rhabdomyolysis and myoglobinuria occur rarely. We present a 43-year-old man with a lifelong history of exercise intolerance associated with myalgia

Mechanisms of exertional fatigue in muscle glycogenoses.

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Exertional fatigue early in exercise is a clinical hallmark of muscle glycogenoses, which is often coupled with painful muscle contractures and episodes of myoglobinuria. A fundamental biochemical problem in these conditions is the impaired generation of ATP to fuel muscle contractions, which

Hypoestrogenemia and rhabdomyelysis (myoglobinuria) in the female judoist: a new worrying phenomenon?

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It is now well established that strenuous engagement in aerobic endurance sports may cause menstrual problems and hypoestrogenemia-related phenomena, such as osteoporosis. The present study was designed to assess whether the competitive practice of female judoists produces specific physiological

Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria.

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An 8-year-old boy was referred for recent onset of easy fatigue. He showed hyperCKemia and mild scapular winging. Muscle biopsy on the quadriceps muscle demonstrated slight fibre size variability. Dystrophin was normally distributed, carnitine palmitoyl transferase and glycolytic enzymes had normal

Myxedema Psychosis: Neuropsychiatric Manifestations and Rhabdomyolysis Unmasking Hypothyroidism

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Background. Hypothyroidism is a prevalent endocrine disorder, often presenting with a spectrum of symptoms reflecting a hypothyroid state. It is also generally linked to causing mood swings, psychomotor slowing, and fatigue; however, in rare instances, it may lead to or induce acute

Case Report: A COVID-19 Patient Presenting with Mild Rhabdomyolysis

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The news was reported from the Wuhan region of China about a novel corona virus in the end of 2019. After spreading around the world, a pandemic was declared by the WHO. Depending on the different involvement of the disease, the most common symptoms are fever, cough, and dyspnea. However, some

Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone.

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The purpose of this study was to evaluate the clinical and neurophysiologic responses to oral prednisone therapy in a boy with enzymatically confirmed long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in biopsied muscle and cultured skin fibroblasts. This boy presented with progressive limb

Recognition, diagnosis, and treatment of mitochondrial myopathies in endurance athletes.

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Endurance athletes complaining of muscle pains concomitant with fatigue and exercise intolerance provide a diagnostic challenge. When the most common causes have been ruled out, the presence of metabolic myopathies, including mitochondrial myopathies (MMs), should be considered. MMs are a group of

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

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BACKGROUND McArdle disease (Glycogen Storage Disease type V) is caused by the absence of the glycolytic enzyme, muscle phosphorylase. People present with exercise-induced pain, cramps, fatigue, and myoglobinuria, which can result in acute renal failure if it is severe. OBJECTIVE To systematically

Therapeutic options in other metabolic myopathies.

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Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations. Herein is a review

[Muscle phosphorylase deficiency in childhood. A case report].

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Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both

Patients with glycogen storage diseases undergoing anesthesia: a case series.

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BACKGROUND Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and

Rabdomiólisis en un paciente con enfermedad de McArdle.

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McArdle's disease or glycogenosis type V is a rare disease due to deficiency of muscle myophosphorylase leading to inability to degrade glycogen at this level. Patients have fatigue, pain, and cramps on a regular basis. In addition, after intense exercise or stressful situation, they

A multi-parametric protocol to study exercise intolerance in McArdle's disease.

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McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps,

Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level.

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Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently

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