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 the differential diagnosis of intermittent claudication some rare myopathies have to be considered. The most frequent is phosphorylase deficiency (McArdle's disease). Exercise-induced muscular pain, weakness, contractures and occasionally myoglobinuria are the most prominent clinical signs. Serum creatine phosphokinase, aldolase and lactic dehydrogenase may be elevated after exertion. In the ischemic forearm test there is no rise of serum lactic acid. The enzyme deficiency can be demonstrated by histochemical and biochemical examination of a muscle specimen. Further, but more infrequent, enzymatic disturbances of glycolysis are phosphofructokinase deficiency and phosphohexoisomerase inhibitor, which also yield an abnormal ischemic forearm test and must be demonstrated histochemically and biochemically. Apart from muscular signs, myopathy with lactic acidosis is associated with palpitation, dyspnea and exhaustion, and a disproportionate rise in serum lactic acid level after exertion. Histochemically and electronmicroscopically demonstrable fat accumulation in the muscle can be a sign of a disturbance in lipid metabolism. This type of exercise-induced myopathy has been reported only in a few cases with carnitine-pylmityltransferase deficiency, which has to be demonstrated biochemically. Muscular contractures also exercise-induced but painless and reversible within seconds may be due to deficient uptake of sarcoplasmic calcium in the tubular system. Dyskalemic paralysis causes painless paresis within minutes of hours after exertion, which disappears within hours to a few days. Myopathy with tubular aggregates can be differentiated from other exercise-induced myopathies by morphology. Myotonia combined with painful contractures characterizes myopathia myotonica.
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PMID:[Exercise-induced muscular weakness, myalgia and contractures. I. A clinical review]. 13 80

Myopathy may be associated with the syndrome of seroconversion in individuals infected by the human immunodeficiency virus (HIV) or may represent the initial symptom of AIDS. In 1990, 39-year old white, single homosexual who was admitted 1 month prior had experienced an episode of edema and pain in the left thigh that faded with the use of nonhormonal antiinflammatory drugs. 15 days later both forearms became enlarged accompanied by pain and erythema. Erythromycin and cefalexine were used without success. Intermittent fever started to appear before admission accompanied by dyspnea when straining. Examination showed tachypnea, oral candidiasis, and enlargement of both upper arms with pain and local erythema without articular involvement. Neurological examination revealed hypotonia and generalized hyperreflexia with intact muscle strength. Serology was positive for HIV, rheumatic activity tests were negative, and muscle biopsy indicated multifocal myonecrosis. Creatinine phosphokinase was 1019 IU (decrease to 44 IU after treatment), aldolase was 19 IU (decrease to 5.6 IU), and glutamic-pyruvic transminase was 50 IU (decrease to 22 IU). Radiography of the thorax indicated interstitial infiltration. Fiberoptic bronchoscopy indicated Pneumocystis carinii pneumonia. Sulfamethoxazole and trimetropim treatment cured the dyspnea and hypoxemia, but the enlargement of both arms progressed. Capillaroscopy indicated vasculitis that was treated without success with indomethacin (150 mg/day), for 7 days; prednisone (40-80 mg/day) for 10 days; and dexamethasone (280 mg/day) for 2 days. 6 days after methotrexate (50 mg/dose/week) treatment the fever disappeared and the enlargement in the extremities receded, but a lower dose of 7.5 mg caused the return of fever and edema in the right thigh. The myopathy remained asymptomatic for 5 months with a weekly dose of 15 mg of methotrexate.
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PMID:[AIDS and myopathy: report of a case and review of the literature]. 180 40

A 25-year-old woman with a 2 years history of painful enlargement of the left calf visited our clinic because of ache in the left calf which became severe enough to interfere her walk. She had no history of trauma to the calf, and family history was negative for muscle disease. Physical examination showed an enlarged left calf muscle with pain which was evoked by stretching of the Achilles tendon. There was no muscle weakness or neurological abnormality. Laboratory tests were all within normal limits, including erythrocyte sedimentation rate and serum enzymes such as creatine kinase and aldolase. The CT scan revealed an isolated round-shaped low density area in the left calf muscle, which showed up as a markedly high signal intensity on T2 weighted images of MRI. The lesion was confirmed to be the lateral head of the gastrocnemius muscle. The specimen obtained from the affected muscle demonstrated degenerative and inflammatory changes together with excess fibrosis. There was no sarcoid lesion or malignancy. From the above results, the present case was thought to have isolated focal myositis. Prednisolone 80 mg (40 mg, twice, at 4-day intervals) was given to the left femoral artery without any trouble. Thereafter the patient became free from pain and difficulty in walking, and the lesion demonstrated by CT scan disappeared in 15 days. However, the high signal intensity on T2 weighted images faintly remained until the 54th day after the treatment. In summary, MRI is more sensitive than CT scan for detection of isolated focal myositis, which might be successfully treated by arterial injection of prednisolone within a short period than any other conventional methods.
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PMID:[A case of isolated focal myositis successfully treated by arterial injection of prednisolone--its findings by CT scan and MRI]. 208 34

A 72-year-old man suddenly developed severe muscle weakness following the treatment with pindolol (Calvisken) for three days. Neurological examination on admission disclosed marked proximal muscle weakness with absent deep tendon reflexes. Laboratory data showed significant increase of serum CK, aldolase and myoglobin. Electromyography revealed both neurogenic and myogenic changes in all muscle tested. Skeletal muscle CT showed patchy low density areas in muscles of thigh and leg, especially in the hamstrings. Femoral muscle biopsy demonstrated a granulomatous nodule with multinucleated giant cells in the degenerated muscle fibers showing small-grouped atrophy. By Mb-PAP staining, Mb-negative fibers were randomly distributed among normally stained ones. Leu 1, 3a, 4, HLA-DR positive cells were found adjacent to the granuloma by immunoperoxidase staining. After immediate withdrawal of pindolol and treatment with steroid, he recovered muscle strength and enzyme activities were normalized in a week. Beta blockers have been known to induce muscle cramps or pain and moderate elevation of serum muscle enzymes. However, severe muscle weakness with highly elevated enzyme activities leading to rhabdomyolysis as noticed in the present case was rarely reported in the literature. Underlying sarcoid myopathy might be suspected to exaggerate this unusual case of pindolol-induced rhabdomyolysis. A careful use of pindolol is emphasized.
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PMID:[Pindolol-induced rhabdomyolysis in sarcoid myopathy]. 233 15

A 39-year-old female with several past psychiatric hospitalization for schizophrenia was admitted to our hospital because of severe pain and swelling of her legs. A few days before onset, she had often sat down upon her heels in water closet, agitated and talking to herself for many hours. Two days before the admission, she had suffered from severe pain and swelling of her bilateral calf-muscles, and her urine became brownish. On admission, neurological findings revealed delirious state, moderate rigidity of limbs, hyporeflexia of legs, marked swelling and severe spontaneous pain in bilateral legs. She was afebrile with body temperature of 36.4 degrees C. Laboratory data showed marked increase of levels of serum CK to 163,000 U/1, myoglobin to 9,860 ng/ml and aldolase to 42.8 IU/1, and the diagnosis of rhabdomyolysis was made. Although she fell into acute renal failure, the renal function recovered after repeated hemodialysis. Several days after admission, swelling and pain of calf-muscles began to improve, and serum CK, myoglobin and aldolase decreased rapidly. One month later, she was able to walk on her own legs. In the literature, rhabdomyolysis associated with immobile posture caused by schizophrenia is extremely rare, and this is the first case reported in Japan. The relationship between rhabdomyolysis and schizophrenia was discussed.
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PMID:[A case of rhabdomyolysis following long time immobile posture caused by schizophrenia]. 259 45

Atherogenous dislipoproteinemia, involving a decrease in HDL cholesterol and 3-4-fold increase in the atherogeneity index was found to develop in rats after emotional-pain-dependent stress. Lipid peroxidation was activated in liver tissue of the animals, which was expressed as an increase in the MDA content, a decrease in SOD activity and as marked activation of fructose I-phosphate aldolase, an enzyme specific for liver tissue, in blood serum. The impairment of liver tissue caused an inhibition of 7 alpha-cholesterol hydroxylase--key enzyme of cholesterol hydroxylation into bile acids; the phenomenon may be of importance in development of dislipoproteinemias. Preadaptation of the animals to moderate hypoxia as well as administration of an antioxidant ionol prevented the activation of lipid peroxidation in liver tissue, liberation of fructose I-phosphate aldolase into blood, depression of 7 alpha-cholesterol hydroxylase and protected against the stress-dependent atherogenous dislipoproteinemia. Possible chemical and adaptational protection of liver, which is a very stress-sensitive tissue, is discussed.
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PMID:[Prevention of atherogenic dislipoproteinemias and metabolic disorders in the liver in emotional-pain stress]. 323 31

Recently, vibrating tools such as chain saws, pneumatic hammers, rock drills, riveters, and grinders have been widely introduced in various industries in order to increase efficiency and to reduce the burden of labor. The disease due to hand-arm vibration often causes serious damages to the operator's body, more particularly of the circulatory, peripheral nervous, osteo-articular and muscular systems. Many kinds of examinations such as roentgenography, electromyography, and sthenometry have been used to diagnose the damage to the musculoskeletal systems. Among these, the measurement of muscular strength, evaluated by grip and pinch strength, is widely used in mass examinations of vibration hazards but this is not always effective in precise recognition of the decrease in muscular strength. In the present study, therefore, in order to diagnose the severity of muscle disorders objectively, serum activities of aldolase (ALD), creatine phosphokinase (CPK) and lactate dehydrogenase (LDH), which are called "muscle enzymes," were determined in 260 chain saw operators aged 40 to 59 years. The same tests were performed for 46 healthy subjects (controls) of a similar age-range, who had a very short experience handling bush cleaners. All chain saw operators were classified into four groups according to the total chain saw operating time (TOT): 1) 58 operators with up to 2,500 hours' experience, 2) 70 with 2,500-5,000 hours' experience, 3) 74 with 5,000-10,000 hours' experience, and 4) 58 with over 10,000 hours' experience. The relationships were investigated in their enzyme activities on the one hand, and their TOT, muscular strength and numbness and pain symptoms related to muscle disorders of the upper extremities on the other hand. The following results were obtained: 1) Serum ALD and LDH activities in chain saw operators increased in proportion to the decrease in muscular strength. The activity of ALD showed a tendency to increase with increased TOT. The ALD activity in the group with over 5,000 hours' experience was significantly higher than that in the control group. However, no relationships were observed between CPK, LDH activities and TOT. 2) In chain saw operators with numbness and pain symptoms, ALD activity in the group with 2,500 hours' experience was significantly higher than that in the control group. However, no obvious relationships were found between CPK, LDH activities and numbness and pain symptoms. 3) In chain saw operators with muscular weakness in addition to numbness and pain symptoms, ALD activity in the group with over 2,500 hours' experience was significantly higher than that in the control group.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Studies on the serum aldolase activity in workers with muscle disorders caused by vibration work]. 667 19

A 54-yr-old man was admitted to Hokkaido University Hospital, complaining of fever, multiple arthralgia, edematous erythema and face and muscular weakness of extremities during the last 2 months. He was diagnosed as dermatomyositis by acceleration of ESR, elevation of GOT, GPT, CPK, aldolase, moderate increases of collagen fibers in biopsy specimen of skin and his clinical signs. Although stools were positive for occult blood, the routine radiographic examination failed to detect the bleeding site in the upper GI. tract. However, in the double contrast picture of the stomach, a very fine abnormal linear shadow was observed at the upper corpus of the lesser curvature. This linear shadow was a margin of the tumor, retrospectively. About 4 months later, abnormal pain occurred and a mass was palpable in the left lumbar region, suggesting a pancreatic tumor. He was operated on excising the tumor, but was performed only exploratory laparotomy because of the presence of intra-abdominal metastases. Death occurred 40 days after the operation and necropsy was done. The gross anatomical findings of the abdomen showed a stomach tumor as large as an infant's head and its metastases to pancreas, lymph nodes, and greater and lesser omentum. Esophageal mucosa including esophagocardiac junction was intact. Histological examination of the intragastric tumor revealed a typical squamous cell carcinoma with keratinization. According to the absence of the components of adenocarcinoma and squamous metaplastic gastric mucosa of non-cancerous areas in the stomach, it seemed likely to be a heterotopic squamous cell carcinoma. It was unknown about the precedence between the stomach cancer and dermatomyositis. There have been 11 cases of primary pure squamous cell carcinoma in the world literature since 1968, but this is the first case report of coexistence of these two diseases.
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PMID:[A case report of a primary pure squamous cell carcinoma of the stomach associated with dermatomyositis (author's transl)]. 726 22

In spring 1981, thousands of people living in Madrid were intoxicated by adulterated edible oil containing oleoanilide and probably other toxic substances. Due to increasing international travel Swiss doctors may also be faced with this particular disease. The case is reported of a 28-year-old woman who presented in May 1981 with a highly febrile influenza-like syndrome after consuming the adulterated oil while in Madrid. In the following weeks she developed myopathy, characterized by muscular weakness and pain, aldolase elevation and typical electromyographic disturbances, as well as edema and general discomfort. The white cell count showed eosinophilia up to 2170/mm3. Five months later, the symptoms are still continuing. Other members of the family have been exposed to the oleoanilide and exhibited various abnormalities which constitute a new clinical syndrome different from previously reported intoxications by industrial oil.
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PMID:[Poisoning by adulterated edible oil]. 732 94

Graft-versus-host disease (GVHD) remains a major complication of allogeneic hematopoietic stem cell transplantation. Polymyositis can occur in association with chronic GVHD and mimics the idiopathic form of the disease. We report two cases of chronic GVHD-associated polymyositis and review the published literature. The two patients presented 13 and 19 months after allogeneic transplantation with characteristic features of muscular hypotrophy, proximal muscle weakness, pain, elevated creatine phosphokinase (CPK), aldolase and SGPT. Interestingly, both patients had HLA DR52 genes, which is frequently reported in association with idiopathic polymyositis. Electromyogram (EMG) and muscle biopsy confirmed the diagnosis. Treatment with cyclosporine or tacrolimus resulted in complete and sustained remission of polymyositis in both cases. A review of the literature shows cyclosporine and steroids are well-described treatment options for patients with myositis in post transplant, as well as idiopathic cases. The duration of immunosuppressive treatment has varied in different reports, and there is a risk of recurrence when immunosuppression is tapered.
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PMID:Chronic graft-versus-host disease manifesting as polymyositis: an uncommon presentation. 1237 97


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