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)

Eosinophilia-myalgia syndrome, a newly recognized disorder that occurred in epidemic proportions during 1989, is associated with ingestion of manufactured tryptophan. A case is defined by debilitating myalgias and absolute eosinophilia greater than or equal to 1.0 x 10(9) cells/L. As of July 10, 1990, a total of 1531 cases had been reported nationwide, including 27 deaths. The highest rates of reported illness are concentrated in the western states, 68% are non-Hispanic white women aged 35 years and older, and data on associated clinical findings suggest a multisystemic disorder. The most frequent features include arthralgia (73%), rash (60%), cough or dyspnea (59%), peripheral edema (59%), elevated aldolase level (46%), and elevations in the results of liver function tests (43%). Neuropathy or neuritis, resulting in paralysis and death in some patients, was seen in 27%, and chest roentgenogram abnormalities were noted in 21% of those tested. Ninety-one percent reported onset of symptoms during or after May 1989, and 97% reported having taken tryptophan before the onset of symptoms. Since the recall of over-the-counter preparations of tryptophan in November 1989, the number of new cases of this potentially fatal disorder has fallen dramatically.
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PMID:Eosinophilia-myalgia syndrome. Results of national surveillance. 239 10

Case notes of 202 patients who were prescribed a single brand of L-tryptophan (Optimax, manufactured by Merck) between January 1987 and December 1991 were examined. Fourteen patients' notes indicated that they had clinical or laboratory findings suggestive of a diagnosis of eosinophilia-myalgia syndrome (EMS). However, results of clinical examination and measurement of serum aldolase, total eosinophil count and antinuclear antibodies did not support the diagnosis of EMS in any of the 14 patients. Although a further study of 50 consecutive patients on L-tryptophan at the time of the investigation revealed that 5 had mild eosinophilia, none reached the criteria for EMS established by the US Centers for Disease Control and Prevention.
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PMID:L-tryptophan and the eosinophilia-myalgia syndrome: a clinical and laboratory study. 789 79

We describe here the case of a young man admitted to our department for asthenia and diffuse myalgia. Because of persistently increasing aminotransferase levels over the preceding 2 years, he had undergone a number of diagnostic procedures to evaluate liver function. On admission to our department, the patient suffered from asthenia, myalgia, notable hair loss and sinus bradycardia. Laboratory examinations confirmed severe primary hypothyroidism with high serum levels of aminotransferase, aldolase and creatine-phosphokinase attributable to thyroprivic myopathy. The thyroid deficit was caused by autoimmune atrophic thyroiditis. Treated with levothyroxine, the patient recovered fully from his illness, his normal metabolic state was restored, and his serum aminotransferase level returned to normal.
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PMID:[Hypothyroid myopathy in a young adult]. 835 21

This retrospective descriptive study aims to characterise and compare the clinical manifestations, course and outcome of 16 Oriental patients with adult-onset Still's disease diagnosed in the last 4 years with published data based on Western populations and another Oriental (Japanese) series. Like the Japanese, we found a female preponderance, an older age at onset, and fewer patients with abdominal pain, myalgia, sore throat and serositis compared to the Western series. A longer delay in diagnosis occurred in patients lacking either arthritis or rash at presentation. Most patients had mild hyponatraemia and 2 patients had overt syndrome of inappropriate anti-diuretic hormone secretion. All patients showed a dissociation of elevated aldolase with normal to low creatine kinase levels. Over 50% relapsed within a year from diagnosis and needed slow-acting anti-rheumatic drugs as steroid-sparing agents. Two were given intravenous pulse cyclophosphamide therapy for progressive pneumonitis. Outcome was generally good with minimal functional impairment and no mortality.
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PMID:Adult-onset Still's disease in an oriental population: manifestations, course and outcome in 16 patients. 958 68

We encountered a case of psittacosis accompanied with rhabdomyolysis in a 66-year-old woman admitted to our hospital because of myalgia, fever, diarrhea, and disorientation. A chest CT scan showed air-space consolidation and ground-glass attenuation in the left lung. Laboratory findings showed elevation of CPK, myoglobin, and aldolase, consistent with rhabdomyolysis. She recovered after administration of intravenous erythromycin and steroid pulse therapy. Psittacosis was diagnosed from the history of exposure to pigeons and from elevation of the IgG titer for Chlamydia psittaci. Rhabdomyolysis is associated with some kinds of viral or bacterial infections. But few case reports have been found in the case of psittacosis. The mechanism whereby rhabdomyolysis complicates psittacosis is unknown. We suggest that psittacosis should be added to the list for differential diagnosis, when rhabdomyolysis develops in a patient with pneumonia.
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PMID:[A case of fulminant psittacosis with rhabdomyolysis]. 1238 28

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

A 57-year-old man underwent an autologous hematopoietic stem cell transplant for mantle cell lymphoma in August 1999. Anemia and thrombocytopenia appeared in November 2001. He was diagnosed with further hematological examination as having acute myeloid leukemia with multilineage dysplasia following secondary myelodysplastic syndrome. He received the allogeneic hematopoietic stem cell transplant from his HLA DRB1 locus mismatched brother in May 2002. The nonmyeloablative preparative regimen consisted of fludarabine 30mg/m2 for 6 days and busulfan 4mg/kg for 2 days. Eosinophilia, decrease of lacrimal fluid and liver dysfunction appeared on Day 104. We diagnosed this as chronic GVHD and treated the patient with prednisolone 10 mg/day. Thereafter, his chronic GVHD gradually improved. He had fever and myalgia in the extremities and lumbar region with elevated serum CPK and aldolase in January 2003. Histological examination led to a diagnosis of polymyositis simultaneously with chronic GVHD. Prednisolone 50 mg/day as an initial dose was started for the polymyositis following which the prednisolone dose was gradually tapered off. The polymyositis improved promptly after the administration of prednisolone and remains in remission with a current maintenance program of prednisolone 5 mg/day.
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PMID:[Chronic GVHD with polymyositis after non-myeloablative stem cell transplantation]. 1644 Aug 6

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

A wide spectrum of muscle disorders caused by Coxsackie B virus, ranging from acute nonspecific myalgia to rhabdomyolisis have been described. Arthritis in not widely recognised as an either manifestation of Coxsackie virus infection, and only ten patients has been reported previously. A case of polymyositis and polyarthritis associated with primary Coxsackie B infection in a 6-year-old girl is reported. Seroconversion of IgM and IgG antibodies for Coxsackie virus B was observed coinciding with the clinical features: fever, herpangine, polyarthritis, erythematous macular rash, myalgia and muscle weakness with high levels of aldolase and creatine kinase. Electromyographic changes of myositis were found. However, histopathologically biopsied muscle demonstrated a slight inflammatory mononuclear cell infiltrate without necrosis or regeneration of muscle fibres. Polyarthritis and full muscle strength was recovered 8 and 32 weeks after the onset, respectively.
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PMID:[Coxsackie virus infection associated with myositis and polyarthritis]. 1843 67

A 35-year-old man suffered from myalgia and joint pain on walking for 5 months. Physical and neurological examinations revealed dermal sclerosis, skin swelling, redness of forearms, Raynaud's phenomenon, joint pain, myalgia and muscle weakness. Eosinophilia was not found and serum creatine kinase activity was normal, while aldolase was markedly elevated. Abnormal signals suggesting synovitis and myofasciitis were found on MRI images. Biopsy of the fascia of quadriceps femoris showed perivascular mononuclear cell infiltration. A muscle biopsy showed mononuclear cell infiltration mainly in the perimysium extending to the endmysium. Eosinophilic cells were not found, Perifascicular atrophy was observed. Corticosteroid therapy improved clinical symptoms and serum aldolase level. We diagnosed him as non-eosinophilic myofasciitis and synovitis with perifascicular atrophy. The serum aldolase activity is usuful for diagnosis and for monitoring the disease activity.
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PMID:[Elevated serum aldolase activity in a patient of non-eosinophilic myofasciitis and synovitis with perifascicular atrophy]. 1934 78


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