The Experts below are selected from a list of 174 Experts worldwide ranked by ideXlab platform
Salvatore Dimauro - One of the best experts on this subject based on the ideXlab platform.
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recurrent Myoglobinuria in a sporadic patient with a novel mitochondrial dna trnaile mutation
Journal of the Neurological Sciences, 2011Co-Authors: Valentina Emmanuele, Kurenai Tanji, Ronald G Haller, Evangelia Sotiriou, Maryam Shirazi, Katja Heinicke, Peter E Bosch, Michio Hirano, Salvatore DimauroAbstract:The differential diagnosis of Myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders. Metabolic myopathies can be due to inherited disorders of glycogen metabolism or to defects of fatty acid oxidation. Primary respiratory chain dysfunction is a rare cause of Myoglobinuria, but it has been described in sporadic cases with mutations in genes encoding cytochrome b or cytochrome c oxidase (COX) subunits and in four cases with tRNA mutations. We describe a 39-year-old woman with myalgia and exercise-related recurrent Myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. Her muscle biopsy revealed ragged-red and COX-deficient fibers. No deletions or duplication were detected by Southern blot analysis. The m.4281A>G mutation was present in the patient's muscle with a mutation load of 46% and was detected in trace amounts in urine and cheek mucosa. Single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient (65%) than in normal fibers (45%). This novel mutation has to be added to the molecular causes of recurrent Myoglobinuria.
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exercise induced cramp Myoglobinuria and tubular aggregates in phosphoglycerate mutase deficiency
Muscle & Nerve, 2006Co-Authors: Shin J Oh, Kyungseok Park, Hewitt F Ryan, Moris J Danon, Jiesheng Lu, Ali Naini, Salvatore DimauroAbstract:We report two patients in whom phosphoglycerate mutase (PGAM) deficiency was associated with the triad of exercise-induced cramps, recurrent Myoglobinuria, and tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels were elevated between attacks of Myoglobinuria. Forearm ischemic exercise tests produced subnormal increases of venous lactate. Muscle biopsies showed subsarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM activities were markedly decreased (3% of the normal mean) and molecular genetic studies showed that both patients were homozygous for a described missense mutation (W78X). A review of 15 cases with tubular aggregates in the muscle biopsies from our laboratory and 15 cases with PGAM deficiency described in the literature showed that this clinicopathological triad is highly suggestive of PGAM deficiency.
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recurrent Myoglobinuria due to a nonsense mutation in the cox i gene of mitochondrial dna
Neurology, 2000Co-Authors: Charalampos Karadimas, Patricia E Greenstein, Jeffrey T Joseph, Kurenai Tanji, Ronald G Haller, T Taivassalo, Mercy M Davidson, S Shanske, Eduardo Bonilla, Salvatore DimauroAbstract: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 sources of energy for muscle contraction. Relatively little attention has been directed to defects of the mitochondrial respiratory chain in patients with otherwise unexplained recurrent Myoglobinuria. Methods: Having documented COX deficiency histochemically and biochemically in the muscle biopsy from a patient with exercise-induced recurrent Myoglobinuria, the authors sequenced the three mitochondrial DNA (mtDNA)-encoded COX genes, and performed restriction fragment length polymorphism analysis and single-fiber PCR. Results: The authors identified a nonsense mutation (G5920A) in the COX I gene in muscle mtDNA. The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not found in blood or fibroblasts from the patient or in blood samples from the patient’s asymptomatic mother and sister. Conclusions: The G5920A mutation caused COX deficiency in muscle, explaining the exercise intolerance and the low muscle capacity for oxidative phosphorylation documented by cycle ergometry. The sporadic occurrence of this mutation in muscle alone suggests that it arose de novo in myogenic stem cells after germ-layer differentiation. Mutations in mtDNA-encoded COX genes should be considered in patients with recurrent Myoglobinuria.
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myophosphorylase deficiency an unusually severe form with Myoglobinuria
The Journal of Pediatrics, 1994Co-Authors: Kristleifur Kristjansson, Selichi Tsujino, Salvatore DimauroAbstract:Myophosphorylase deficiency (McArdie disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and Myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced Myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.
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metabolic causes of Myoglobinuria
Annals of Neurology, 1990Co-Authors: Paola Tonin, Paulette Lewis, Serenella Servidei, Salvatore DimauroAbstract:: To evaluate the proportion of cases of Myoglobinuria that can be ascribed to specific metabolic defects, we have studied eight enzymes--phosphorylase, phosphorylase kinase, phosphofructokinase (PFK), phosphoglycerate kinase (PGK), phosphoglycerate mutase (PGAM), lactate dehydrogenase (LDH), carnitine palmitoyltransferase (CPT), and myoadenylate deaminase (MAD)--in muscle biopsy specimens from 77 consecutive patients with Myoglobinuria (documented in 44, suspected in 33). Enzyme defects were found in 36 patients: CPT deficiency in 17, phosphorylase deficiency in 10, phosphorylase kinase deficiency in 4, MAD deficiency in 3, PGK deficiency in 1, and a combined defect of CPT and MAD in 1. Exercise was the main precipitating factor, both in patients with and in those without detectable enzymopathies. Thirty patients had specific enzymopathies without Myoglobinuria: 14 had phosphorylase deficiency, 9 had MAD deficiency, 3 had phosphorylase kinase deficiency, 3 had PFK deficiency, and 1 had PGAM deficiency. Systematic biochemical evaluation of muscle biopsy specimens revealed specific enzymopathies in about half of the patients with idiopathic Myoglobinuria. The rest may have blocks of metabolic pathways not yet studied routinely, such as beta oxidation, or genetic defects of the sarcolemma, such as Becker's muscular dystrophy.
Raja Sinniah - One of the best experts on this subject based on the ideXlab platform.
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acute renal failure from Myoglobinuria secondary to myositis from severe falciparum malaria
American Journal of Nephrology, 2000Co-Authors: Raja SinniahAbstract:Renal disease is a common complication in malaria infection. In acute falciparum malaria renal involvement is usually mild, but in severe disease acute renal failure is a major problem. Acute renal failure has been attributed to ischaemic tubular necrosis from hypovolaemia resulting from vasodilatation due to endothelial injury. Though myositis is recorded as a common manifestation in falciparum malaria, only 1 case with myositis and Myoglobinuria with acute renal failure has been documented; but no renal biopsy was performed in the patient. In the present study we examined the case of a 17-year-old man with severe falciparum malaria with myositis and Myoglobinuria who developed acute renal failure requiring dialysis. Muscle biopsy revealed severe myositis with macrophages and T lymphocytes including CD4+ cells. The kidney biopsy showed scanty T cells and macrophages in the glomeruli which were only mildly hypercellular. The renal tubules showed myoglobin casts in the lumen and foci of interstitial inflammatory cells, including macrophages and T lymphocytes but no CD4+ cells. Rhabdomyolysis induced by macrophages and T cells with Myoglobinuria and acute renal failure is a problem in severe falciparum malaria infection.
Kok Pin Yong - One of the best experts on this subject based on the ideXlab platform.
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severe falciparum malaria with dengue coinfection complicated by rhabdomyolysis and acute kidney injury an unusual case with myoglobinemia Myoglobinuria but normal serum creatine kinase
BMC Infectious Diseases, 2012Co-Authors: Kok Pin YongAbstract:Background Acute kidney injury (AKI) is a complication of severe malaria, and rhabdomyolysis with Myoglobinuria is an uncommon cause. We report an unusual case of severe falciparum malaria with dengue coinfection complicated by AKI due to myoglobinemia and Myoglobinuria while maintaining a normal creatine kinase (CK).
D Schiffer - One of the best experts on this subject based on the ideXlab platform.
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Myoglobinuria and carnitine palmityl transferase deficiency in father and son
Journal of Neurology, 1991Co-Authors: Tiziana Mongini, C Doriguzzi, L Palmucci, Loredana Chiadopiat, M Maniscalco, D SchifferAbstract:A 18-year-old man had recurrent Myoglobinuria following exercise and fasting. His parents originated from the same village, which had less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent Myoglobinuria in two generations (so-called quasidominant transmission).
Hanan Munitz - One of the best experts on this subject based on the ideXlab platform.
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absence of Myoglobinuria in acute psychotic patients with marked elevation in serum creatine phosphokinase level
European Neuropsychopharmacology, 2001Co-Authors: Haggai Hermesh, Iris Manor, Roni Shiloh, Ronit Weizman, Hanan MunitzAbstract:Abstract Elevated levels of serum creatine phosphokinase, muscular type (CKMM) are caused primarily by diseased muscle fiber. Acute psychoses are often associated with a marked increase in serum CKMM levels, though the reason remains obscure. Since striated muscle damage is also associated with pigmenturia and Myoglobinuria, we sought to determine whether the markedly high serum CK level of acute psychosis reflects skeletal muscle damage by evaluating urinary myoglobin in affected patients. Baseline serum CK was measured on admission in 713 consecutive acute psychotic inpatients (BPRS≥40). Those showing a serum CK levels above 1000 IU/l on the first 2 days of hospitalization underwent urine collection for myoglobin testing. Patients with physical trauma or medical conditions known to cause CKemia were excluded. Twenty-five patients were eligible for the study. In no case did Myoglobinuria or pigmenturia accompany the marked CKemia. There is an unexpected dissociation between the robust increase in the serum CKMM levels and the absence of Myoglobinuria in acute psychosis. Our negative finding may indicate that the serum CK threshold for Myoglobinuria is very high (above 10 000 IU/l). Alternatively, psychosis-associated CKemia may be related to an unknown, nontraumatic, pathophysiological mechanism(s).