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)

In 200 patients with neuromuscular diseases the author studied malonic dehydrogenase and lactic dehydrogenase activity comparing it with the activity of serum creatine kinase and aldolase. A significant rise in the values of all these enzymes was found only in the Duchenne type of muscular dystrophy, in polymyositis, and less frequently in the limb-girdle type of muscular dystrophy. Raised activity of creatine kinase and sidolase was observed in mothers and sisters of patients with Duchenne type of dystrophy, in patients with non-progressive myopathy, periodic paralysis, amyotrophic lateral sclerosis and polyneuropathy. With progression of dystrophy the activity of these enzymes decreases.
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PMID:[Serum enzymatic activity in neuromuscular diseases]. 112 44

The eosinophilia-myalgia syndrome is a newly described disease associated with ingestion of a contaminant or byproduct of the amino acid L-tryptophan. Patients typically present with intense myalgias, especially of the extremities, and commonly suffer from skin and subcutaneous manifestations (edema and induration of the skin, morphea-like lesions, pruritus). Less frequent findings are cardiorespiratory involvement (cough, dyspnea, pulmonary infiltrates) and neurologic disease (ascending polyneuropathy). Laboratory findings include blood eosinophilia (greater than 10(9) cells per liter), normal to slightly elevated serum aldolase levels, and negative studies for connective tissue diseases (normal erythrocyte sedimentation rate, negative antinuclear antibodies). Tissue damage in eosinophilia-myalgia syndrome is likely related to infiltration by eosinophils with subsequent release of toxic molecules such as major basic protein. Management in severely ill patients includes administration of corticosteroids.
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PMID:Eosinophilia-myalgia syndrome. 189 58