Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven patients who developed a syndrome of eosinophilia, connective-tissue disease, and cutaneous abnormalities while ingesting tryptophan were examined. Other clinical manifestations commonly seen were pulmonary symptoms, fever, lymphadenopathy, and the development of myopathy. Laboratory features included mild elevations of aldolase and lactate dehydrogenase levels, with essentially normal creatine kinase levels, erythrocyte sedimentation rates, and C-reactive protein levels. Biopsy findings included features of scleroderma, small-vessel vasculitis, fasciitis, and myopathy. Discontinuation of tryptophan administration and implementation of corticosteroid therapy were of some benefit in relieving the intense myalgias and cutaneous findings that developed. Although temporally related to tryptophan ingestion, it is unclear whether this substance, a metabolite, or a contaminant were causal. We speculate that the pathogenesis of this syndrome may relate to abnormalities in tryptophan metabolism.
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PMID:Tryptophan-associated eosinophilic connective-tissue disease. A new clinical entity? 230 82

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

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

Vascular abnormalities are one of the common features in rheumatic diseases, but their pathogenesis is still not known. Angiogenin, a molecule implicated in the angiogenic process, may play some roles in such vascular changes. Serum angiogenin concentrations were measured in 21 scleroderma patients, 10 patients with systemic lupus erythematosus (SLE), 21 patients with dermatomyositis (DM), 5 patients with polymyositis (PM), 11 patients with clinically amyopathic DM (CADM) and 12 normal subjects, with specific enzyme-linked immunosorbent assays. Angiogenin mRNA in vivo was determined in skin tissues of 5 DM patients, 4 CADM patients, 5 SLE patients and 7 normal subjects using quantitative real-time polymerase chain reactions. We could not find any significant differences in the serum angiogenin levels among normal subjects and patients with rheumatic diseases. However, when we evaluated the correlation of serum angiogenin levels with clinical features of 32 DM/CADM patients, the patients with increased angiogenin levels had significantly higher aldolase levels than those with decreased levels. On the other hand, angiogenin mRNA is significantly up-regulated in the involved skin of DM and CADM, suggesting that angiogenin expression is up-regulated locally in the skin but not in sera of patients with DM and CADM. In conclusion, dysregulated angiogenin expression may contribute to the pathogenesis of myositis as well as skin involvement via the vascular change in DM/CADM. Further studies with an increased number of patients may help to clarify the relationship between angiogenin and vascular abnormalities in rheumatic diseases and to develop new therapeutic strategies.
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PMID:Angiogenin expression in the sera and skin of patients with rheumatic diseases. 2322 15