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)

Adult acid maltase deficiency (AMD, glycogen storage disease type II) may involve respiratory muscles leading to severe respiratory failure even before the affection of pelvic girdle muscles has turned the patient non-ambulatory. The case of a 29-year-old woman is presented to demonstrate that long-term survival is possible even after acute respiratory failure has occurred. The examination of the patient's family revealed the diagnosis of AMD in her 24-year-old sister, so far without clinical symptoms. The comparison between the two patients of serum enzyme elevations (CK, LDH, GOT, GPT, aldolase) suggested that both physical activity and the stage of the disease may be correlated with the degree of enzyme level elevation.
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PMID:[Clinical follow-up in the adult (myopathic) form of glycogenosis type II]. 242 22

The levels of the glycolytic enzymes, phosphohexose isomerase, aldolase and LDH and its isozymes, were ascertained in the aqueous of human stillbirths and premature neonate dead (19-24 weeks gestation) and compared with those of older neonates (28-41 weeks) of low survival due mainly to respiratory failure. The fetal aqueous displayed a much greater LDH-P level (mean mU/ml +/- SEM: 45,600 +/- 2550; 72 eyes) in contrast to the near-term infant value (2420 +/- 615; 27 eyes) and 8-20 times higher aldolase and phosphohexose isomerase levels. LDH-P of the fetal vitreous was much lower (5820 +/- 860 mU/ml; 25 eyes) and for lens employed as a filtered homogenate in saline (1:20), amounted to 52.2 +/- 4.2 mU/mg lens (24 eyes). The distribution of LDH isozymes in the fetal vitreous and lens homogenate and the near-term neonate aqueous as determined by polyacrylamide disc electrophoresis, was similar to that of the fetal aqueous, LDH-1 and LDH-5 being least and LDH-3 and LDH-4, the highest. A few small but significant differences were apparent as compared to the fetal aqueous isozymes and included decrements in vitreous LDH-4, lens LDH-3 and neonatal aqueous LDH-3 and increases in vitreous LDH-2 and near-term aqueous LDH-4. The current findings may have application to retinoblastoma for which higher aqueous LDH levels have been reported and employed as a diagnostic adjunct. However, the fetal aqueous LDH values far exceed those encountered in this embryonal-type tumour.
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PMID:Glycolytic enzymes of human fetal and neonatal intraocular fluids. 404 Apr 54

A 61-year-old woman was admitted to our hospital with a two week history of knee-joint pain, dry coughing and dyspnea on exertion. A chest roentgenogram revealed bilateral patchy and infiltrative shadows. Laboratory examination revealed high CK and aldolase levels. Although myositic symptoms were absent, the respiratory symptoms rapidly worsened and respiratory failure developed. An open-lung biopsy and a muscle biopsy were done. The open-lung biopsy specimen showed bronchiolitis obliterans organizing pneumonia (BOOP), but the muscle biopsy specimen revealed non-specific findings. After 4 weeks of intravenous intermittent high-dose corticosteroid therapy, 50mg of cyclophosphamide was given daily, along with 20mg of prednisolone on alternate days. There were marked clinical, physiological and roentgenographic improvements. A test for anti-Jo-1 antibody was positive, which suggested that this patients had pulmonary manifestations of polymyositis/dermatomyositis. Although BOOP can have an indolent course and a good prognosis, it may rapidly worsen and respiratory failure may develop, in which case it should be treated aggressively with a combination of intravenous high-dose corticosteroids and immunosuppressants.
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PMID:[Rapidly progressing BOOP in a patient with positive anti-Jo-1 antibody: response to corticosteroid pulse and immunosuppressant therapy]. 895 14

A 49-year-old lady with no past medical history presented with dysphagia and 40-pound weight loss, which occurred over eight months. On physical examination, she had proximal muscle weakness and crackles in basilar regions of the lungs. Labs were significant for low albumin, elevated transaminases, and high aldolase. Imaging suggested aspiration pneumonitis in both lungs and hepatic steatosis. A swallow evaluation revealed oropharyngeal dysphagia and muscle biopsy confirmed a rare form of myositis. A liver biopsy showed steatohepatitis and a diagnosis of starvation-induced steatohepatitis was made. The patient succumbed to hypoxic respiratory failure from aspiration pneumonitis before the treatment for myositis could be initiated. We report the first case of starvation-induced steatohepatitis in a patient with dysphagia from myositis affecting the oropharyngeal musculature.
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PMID:Thin Patient, Fatty Liver. 3105 22