Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:4.1.2.13 (aldolase)
3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We described three children with juvenile dermatomyositis (JDM) refractory to the conventional therapy. They were successfully treated with intravenous cyclophosphamide (IVCY) pulses, and two of them were administered plasma exchange (PE) before IVCY. Case 1. A 17-year-old girl with JDM was previously treated for 2 years with the combination of prednisolone, intravenous gamma-globulin, methotrexate, and azathioprine. However, muscle weakness gradually progressed. She failed to hold her sitting position and to rise her arms, but both serum CK and aldolase were stable. After the episode of aspiration pneumonia the follow-up muscle biopsy was performed, which revealed muscle degeneration and massive mononuclear cell infiltration in perivascular area. The erythrocyte sedimentation rate (ESR) and fibrin degradation product E (FDP-E) levels were gradually increased. Because the active inflammation of muscle and muscle vasculature was suspected, the PE and IVCY combination therapy was administered. During the 6 courses of the therapy, muscle weakness was markedly improved so that she could hold herself at the sitting position and could have meals by herself. Case 2. A 5-year-old boy with JDM was treated for 8 months with prednisolone p.o., but his muscle strength became worse. The muscle enzyme levels, such as serum CK and aldolase, were not reflecting his status of the disease, but FDP-E levels were increased. Muscle MRI and biopsy revealed the inflammatory changes of perivascular area of muscle. The PE and IVCY combination therapy was effective, and he became able to walk and run by himself. Case 3. A 14-year-old boy was diagnosed as having JDM when he was 10 years of age, and treated with prednisolone p.o., and subsequently with intravenous methylprednisolone pulses and azathioprine. Three years later the flares were observed accompanied with the elevations of serum CK and FDP-E. The administration of IVCY improved muscle strength as well as serum muscle enzyme and FDP-E levels. These findings indicated that the clinical manifestations of JDM should be closely monitored, that the serum levels of muscle enzymes including CK and aldolase were sometimes not indicative for the flares of JDM, and that muscle MRI and re-biopsy examination were needed for the children with progressive muscle weakness. In addition, determination of ESR and FDP-E was not specific but helpful to detect flares of the disease in some cases.
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PMID:[Intravenous cyclophosphamide pulse therapy for refractory juvenile dermatomyositis]. 1263 9

We report a 30-year-old man with very-long-chain acyl-coenzyme A deficiency presenting recurrent rhabdomyolysis. Since the age of 18-year-old, he had noticed recurrent episodes of exercise induced limb muscle pain, limb weakness and dark colored urine. At 29-year-old, he developed the same symptoms, and was referred to our hospital for further examinations under a diagnosis of recurrent rhabdomyolysis. He had no history of trauma, administration of drugs, infections and other factors causing rhabdomyolysis. There were no similar cases in his household. Neurological examinations on admission revealed no abnormal findings. Routine laboratory findings only showed mildly elevated levels of muscle-origin enzymes including CK and aldolase. Ischemic forearm exercise test showed normal levels of lactate and pyruvate in resting state, and normal response after exercise. Organic acids in urine at asymptomatic period were normal. Total carnitine and acyl-carnitine levels in serum were low. Electrospray tandem mass spectrometry in dried blood spots and serum identified elevated level of tetradecenoic acid (C14:1), and palmitoyl-CoA dehydrogenase activity of lymphocytes was deficient. Based on these data, we made a diagnosis of very-long-chain acyl-coenzyme A (VLCAD) deficiency in this patient. Several reports showed that muscular form (adult onset form) of VLCAD deficiency demonstrated recurrent rhabdomyolysis, but true 'adult-onset' case with VLCAD deficiency have been rarely reported. We emphasize that muscular form of VLCAD deficiency should be regarded as one of the causes of recurrent rhabdomyolysis in adult.
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PMID:[Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult]. 1293 30

Aldolase (E.C. 4.1.2.13), a homotetrameric protein encoded by the ALDOA gene, converts fructose-1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde-3-phosphate. Three isozymes are encoded by distinct genes. The sole aldolase present in red blood cells and skeletal muscle is the A isozyme. We report here the case of a girl of Sicilian descent with aldolase A deficiency. Clinical manifestations included transfusion-dependent anemia until splenectomy at age 3 and increasing muscle weakness, with death at age 4 associated with rhabdomyolysis and hyperkalemia. Sequence analysis of the ALDOA coding regions revealed 2 novel heterozygous ALDOA mutations in conserved regions of the protein. The paternal allele encoded a nonsense mutation, Arg303X, in the enzyme-active site. The maternal allele encoded a missense mutation, Cys338Tyr, predicted to cause enzyme instability. This is the most severely affected patient reported to date and only the second with both rhabdomyolysis and hemolysis.
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PMID:Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). 1563 14

A 61-year-old man was admitted to our hospital because of edematous erythema on his upper eyelids and dry cough. No subjective nor objective findings suggestive of skeletal muscle involvement, such as muscle weakness and elevated levels of aldolase and creatine phosphokinase were noted. Chest high-resolution computed tomography revealed a ground glass opacity and consolidation of his lower lung. Skin biopsy findings were compatible with dermatomyositis. Therefore, he was diagnosed as amyopathic dermatomyositis (ADM) with acute interstitial pneumonia and treatment with steroid pulse therapy was started. Since histological evaluation showed diffuse alveolar damage during the initial treatment, the treatment was changed into the combination therapy of prednisolone and cyclosporine. However, his acute interstitial pneumonia did not respond to this treatment and passed away by aggravation of a breathing state and concurrence of disseminated intravascular coagulation. Japanese patients with ADM have been shown to be more frequently associated with intractable acute interstitial pneumonia than Caucasian patients, suggesting that the racial difference influences the occurrence of acute interstitial pneumonia in ADM. Since autoantibodies specific for ADM have not been detected, we performed immunoprecipitation analysis using 35S methionine-labeled K562 cells to identify them. His sera immunoprecipitated a polypeptide of 140 kDa. The 140 kDa polypeptide might be one of autoantibodies specific for ADM with acute interstitial pneumonia, although future analysis using a larger number of patients with ADM will be required to confirm this result.
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PMID:[A case of amyopathic dermatomyositis with acute interstitial pneumonia (DAD pattern)]. 1516 31

A 72-year-old woman with von Recklinghausen's disease was referred to our hospital because of pain and muscle weakness in her thighs. She had elevated serum values of creatine kinase, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and aldolase. Based on these results, a diagnosis of polymyositis was made. Treatment with prednisolone improved muscle strength, and laboratory values returned to normal. Computed tomography, magnetic resonance imaging of the abdomen, and 131I-metaiodobenzyl guanidine MIBG scintigraphy demonstrated a tumor 3 cm in diameter in the region of the left adrenal gland. Endocrinologic investigation disclosed elevation of serum and urine catecholamines. Since the blood pressure was normal, nonfunctioning pheochromocytoma was diagnosed clinically. The nonhypertensive course was attributed to reduced vascular response to noradrenaline. Serum lactate dehydrogenase. alkaline phosphatase. and asparate aminotransferase became elevated, and abdominal computed tomography showed a well-defined mass measuring 13 x 12 x 10 cm in the right lobe of the liver. The patient underwent right trisegmentectomy and left adrenalectomy. Histologically the adrenal tumor was a typical pheochromocytoma. The hepatic tumor was a leiomyosarcoma consisting of elongated spindle-shaped atypical cells arranged in intersecting bundles. Immunohistochemically, the cells of this tumor were reactive for alpha-smooth muscle actin and vimentin. The leiomyosarcoma recurred and metastasized to the liver. Eight months after onset of symptom, the patient developed hepatic coma and died. The mean age at presentation with pheochromocytoma in von Recklinghausen's disease patients age is 42 years. Our patient was considerably older. To the best of our knowledge this is the first report of a patient with von Recklinghausen's disease developing polymyositis. asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma and illustrates the need to remain aware of the possibility of cancer in von Recklinghausen's disease.
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PMID:[A patient with von Recklinghausen's disease associated with polymyositis, asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma]. 1523 55

Because the clinical significance of von Willebrand factor (vWF), a marker of endothelial injury, has not been well studied in adult patients with dermatomyositis (DM), we evaluated whether plasma vWF levels are useful as an index of disease activity in these patients. We measured plasma vWF antigen levels in 11 patients with active adult DM, 13 patients with inactive DM, and 18 healthy subjects using an enzyme-linked immunosorbent assay. The association of vWF level with clinical condition and muscle-derived enzyme leakage among DM patients was examined using analysis of covariance and logistic regression analysis. Furthermore, we studied the effects of treatment on the vWF antigen level. The mean vWF antigen level was significantly higher in active DM patients than in inactive DM patients and healthy subjects. Higher vWF levels were associated with clinical symptoms, such as general fatigue, fever, and muscle weakness. They were also associated with the levels of aspartate aminotransferase, alanine aminotransferase, and aldolase, but not with those of lactate dehydrogenase and creatine kinase (CK). vWF antigen was correlated with muscle enzymes except for CK. The plasma vWF levels in six patients with active DM significantly decreased after successful corticosteroid treatment. Plasma vWF level may be considered a useful marker of disease activity in adult DM patients.
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PMID:Clinical significance of von Willebrand factor in patients with adult dermatomyositis. 1556 94

Chronic graft-vs.-host disease (cGVHD) occurs in 20-50% of patients who survive for at least 100 d after allogeneic stem cell transplantation (SCT). cGVHD includes scleroderma-like skin changes, chronic cholangitis, obstructive lung disease and general wasting syndrome. Polymyositis or myopathy are rare manifestations of cGVHD with approximately 40 reported cases. Polymyositis accompanied by hemosiderin deposits in cGVHD has been reported only once, and there are no reports on lipofuscin deposits in skeletal muscle cells in cGVHD. We report here on a 56-yr-old male who underwent allogeneic SCT in 1999 for osteomyelofibrosis and progressive hematopoietic insufficiency. In February 2004, the patient was hospitalized for progressive muscular weakness with loss of the ability to walk. Laboratory tests demonstrated normal values for serum creatine kinase, aldolase and lactic dehydrogenase; the ferritin level was highly elevated. The femoral muscle biopsy showed mostly perifascicular atrophy as well as numerous subsarcolemmal hemosiderin and lipofuscin deposits. Intravenous administration of the chelating agent deferoxamine was ineffective. Three weeks later the patient died of aspiration pneumonia. Interestingly, autopsy disclosed moderate hemosiderin deposits in the liver, the organ usually involved in hemosiderosis.
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PMID:Hemosiderin deposits in chronic graft-vs.-host disease related myopathy. 1631 67

Steroid myopathy is usually a slowly progressive disease, which causes weakness primarily to the proximal muscles of the upper and lower extremities. The monitoring of this problem is difficult in situations in which the primary disease itself produces muscle weakness. The distinguishing feature in steroid myopathy is the occurrence of creatinuria in the presence of normal muscle enzymes including creatine kinase and aldolase. To evaluate the usefulness of percent creatinuria {urinary excretion of creatine/(urinary excretion of creatine + urinary excretion of creatinine)} in the diagnosis of steroid myopathy, we measured percent creatinuria in 26 patients (14 male and 12 female) without muscle diseases before the initiation of steroid treatment We found that the median values of percent creatinuria of the male and female patients were 2.5% and 17.1%, and that the ratios of the male and female patients presenting with an elevated percent creatinuria (more than 10%) were 3 out of 14 patients (21.4%) and 8 out of 12 patients (66.7%), respectively. We also found one patient with mild renal dysfunction presenting with an elevated percent creatinuria but without muscle weakness or myalgia. These findings suggest that the measurement of percent creatinuria is of little value in the diagnosis of steroid myopathy with a cutoff value of 10%. Furthermore, it is important to measure percent creatinuria before the steroid treatment, while paying close attention to the measurement method, sex, renal function and protein level of the diet.
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PMID:[Reevaluation of validity of percent creatinuria for diagnosing steroid myopathy]. 1648 20

We have studied four members of a family in which five individuals of both sexes in three generations have mild weakness and muscle aching. Serum creatine kinase (CK) and/or aldolase were mildly to moderately elevated. Tubular aggregates were present in all patients in all fiber types. Type 1 fiber predominance and type 2 hypotrophy or atrophy was noted in three biopsies. Fiber splitting was prominent in two cases. Electron microscopic studies confirm that the tubular aggregates originate from muscle sarcoplasmic reticulum (SR). The presence of T tubules making contacts with some tubules inside the collection of tubular aggregates is suggestive of their derivation from terminal cisternae.
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PMID:Familial neuromuscular disease with tubular aggregates. 1675 95

Eosinophilic fasciitis is a rare connective tissue disease in children characterized by hardening and thickening of the skin and soft tissues, peripheral eosinophilia, elevated erythrocyte sedimentation rate, and hypergammaglobulinemia. In this study, we report three pediatric patients with eosinophilic fasciitis whose clinical presentation and response to therapy differed from those reported in the literature. All three patients were female. Two of them had Raynaud's phenomenon as an initial feature, and the third had hepatosplenomegaly. Muscle involvement with weakness was present in two patients, as documented not only by increased aldolase levels at the time of presentation but also by inflammatory changes in the muscle biopsy. Serum immunoglobulin G levels were increased only in the most severely involved patient. Peripheral eosinophilia was present in all three cases. All three patients responded well to prednisone therapy. Two patients had a uni-phasic course, and one required further therapy to control a postinfection relapse. In summary, we found that Raynaud's phenomenon and hepatosplenomegaly can be part of the spectrum of clinical manifestations of childhood eosinophilic fasciitis. Identification as eosinophilic fasciitis and not scleroderma, despite hand involvement and Raynaud's phenomenon, can suggest that the illness may be steroid responsive.
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PMID:Faces of eosinophilic fasciitis in childhood. 1704 31


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