Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In myopathic disorders, abnormal serum enzyme activities are seen primarily in diseases of skeletal muscle where the condition involves the muscle fibers themselves. In denervation myopathies, serum enzyme activities are usually normal. The most dramatic increases of serum enzymes, particularly creatine kinase, are found in the dystrophic diseases, particularly Duchenne dystrophy. A review is given here of the many causes of abnormal serum enzyme activities where the source of enzymes is believed to be skeletal muscle. These include the dystrophies, various types of trauma, exercise, drug- and poison-induced causes including alcohol, malignant hyperthermia, inflammatory diseases, and miscellaneous causes. Tissue and serum activities are summarized for the commonly performed serum enzymes, i.e., CK, LD, AST, and aldolase. An extensive tabular and current description of the various types of dystrophies is given along with serum CK and pyruvate kinase activities.
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PMID:The enzymology of skeletal muscle disorders. 637 45

Case reports are presented on 4 outpatients with hereditary disorders of metabolism. 1. In a 46-year-old male of Sicilian origin with haemolytic anaemia and leg ulcers, the blood contained numerous target cells, the sickling test was positive, and more than 80% of the haemoglobin was found to be HbS. Investigation of the family revealed double heterozygosity for HbS and beta-thalassaemia. 2. In a family with hereditary nonspherocytic haemolytic anaemic, the biochemical characterization of an abnormal pyruvate kinase is reported: the kinetic data were found to be normal, the electrophoretic migration rate of the abnormal enzyme was increased, and its thermostability was marked decreased. 3. Malignant hyperthermia was observed in an 18-year-old male. The limited value of all methods for identifying affected family members is discussed. 4. In 2 sisters who suffered life-threatening attacks of acute myoglobinuria, differential diagnosis comprised hereditary deficiency of phosphofructokinase, muscle phosphorylase and carnitine palmityl transferase. The activity of the former two enzymes was found to be normal. The circumstances of the myolytic crisis in the two patients provide strong evidence for the presence of a muscle carnitine palmityl transferase deficiency.
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PMID:[Clinical demonstrations of hereditary disorders of metabolism]. 745 56