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)

A histological, histochemical and ultrastructural study of muscle tissue was performed in the parents of a patient affected by a infantile form of acid maltase deficiency (Pompe's disease). In both parents the clinical examination was normal, but serum levels of creatine kinase (CK) and aldolase were high. Histological and histochemical examination of muscle did not reveal any abnormality. Ultrastructural study showed an excess of glycogen granules below the sarcolemmal sheat and between myofibrils, often associated with clusters of mitochondria. There was no glycogen trapped in lysosomal vesicles. The mechanism of glycogen storage in Pompe's disease seems to involve an enzymatic deficiency other than acid maltase.
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PMID:Pompe's disease: ultrastructural alterations of muscle tissue in parents. 27 44

Simultaneous determination of aldolase fructose-1-phosphate activity in the liver and blood plasma of experimental rats gives possibility to judge of histohaematic permeability of liver barriers. The presence and advancement of the pathological process in liver is characterized by acid maltase activity. Normalization of histohaematic barrier permeability is observed after ultrasonic action of 0.2 wt/cm2 intensity on the liver area in experimentally induced immunological hepatitis.
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PMID:[Changes in enzyme activity as affected by ultrasound in different functional states of the liver]. 638 47

Glycogen storage disease with normal acid maltase first reported by Danon et al. was characterized clinically by mental retardation, cardiomyopathy, and proximal myopathy. Since the first report, 17 patients have been reported including 5 patients from Japan. In this paper we described a 26-year-old man who had dilatated cardiomyopathy with a pacemaker implanted at age 22 years. He was admitted to our hospital complaining of easy fatigability in February 1992. Neurological findings showed that he had mental retardation. Serum CK, GOT, GPT and aldolase levels were elevated. Histopathological study of biopsied skeletal muscle showed intracytoplasmic vacuoles with increased acid phosphatase and slightly increased PAS positive material. Electron microscopic study revealed numerous glycogenosomes (autophagic vacuoles containing glycogen). These pathological findings were similar to acid maltase deficiency, but activities of carbohydrate metabolic enzyme including acid maltase activity were normal in the biopsied muscle. From these results, he was diagnosed as having glycogen storage disease with normal acid maltase. We also found abnormal platelet function and glycogen accumulation in the platelets, which have not been previously described. The disease is probably a systemic disorder affecting not only skeletal and cardiac muscles, but platelets.
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PMID:[A case of glycogen storage disease with normal acid maltase accompanied with the abnormal platelet function]. 799 92

A 13-year-old boy with mental retardation developed idiopathic cardiomyopathy and glycogen storage myopathy, but with normal lysosomal enzyme activities, consistent with a syndrome of lysosomal glycogen storage disease with normal acid maltase coined by Danon et al (1981). He was in good health except for WPW syndrome diagnosed at 7 years of age. He had heart murmur with abnormal ECG, elevated serum GOT, GPT, LDH, CK and aldolase levels. An echocardiogram showed obstructive hypertrophic cardiomyopathy. Lysosomal enzyme activities including acid alpha-glucosidase in fibroblasts were within normal limits. In the biopsied biceps brachii muscle, there was a mild variation in fiber size. An approximately 10 percent of myofibers had tiny vacuoles which contained periodic acid Schiff positive granules and were slightly high in acid phosphatase activity. The vacuoles were encircled by membranes with high neuron specific enolase (NSE) and acethylcholin-esterase (AchE) activities. On electron microscopy, numerous autophagic vacuoles scavenging glycogen granules were recognized as seen in acid maltase deficiency. Because the vacuolar membranes were high in NSE and AchE activities, lysosomal membrane formation from the cell membrane may be defective. When one has a patient with mild to moderate mental retardation, idiopathic hypertrophic cardiomyopathy and high serum CK level, muscle biopsy must be performed to rule out the present disorder.
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PMID:[A patient with lysosomal glycogen storage disease with normal acid maltase]. 839 37

A 29-year-old male who had a past history of mild ECG abnormality of arrhythmia at the age of 14 years, was referred to our hospital because of elevated serum creatine kinase (CK) level. He had never been aware of muscular weakness nor cardiac symptoms. Neurological examination revealed normal muscle strength of all extremities except marked back muscle weakness. He had normal intelligence. On laboratory examination, serum AST, ALT, LDH, aldolase, CK and myoglobin levels were elevated. Both lactate and pyruvate levels were normally responded after an ischemic exercises test. Acid maltase activity was normal in white blood cells. A muscle biopsy obtained from rectus femoris muscle revealed vacuolar myopathy with mildly increased PAS positive material. On electron microscopy, there were autophagic vacuoles scavenging glycogen particles and cytoplasmic debris, and sarcolemmal indentation, compatible with the findings of lysosomal glycogen storage disease with normal acid maltase. This patient had unusual clinical features of absent mental retardation and no apparent cardiomyopathy. Accordingly, mental retardation is probably not necessary to see later onset of cardiac muscle involvement.
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PMID:[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. 1088 38

We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some, but not all, glycogenoses, may result in skeletal muscle pathology. Among those that result in vacuolar myopathic changes, glycogen storage disease III or debrancher enzyme deficiency, an autosomal recessive condition, is less commonly encountered than acid maltase (Type II) and myophosphorylase (Type V) deficiencies. Many patients with debrancher enzyme deficiency also have liver involvement. The neurological examination of our patient showed mild proximal limb weakness and decreased reflexes. He had elevated creatine kinase and aldolase levels. He also demonstrated some elevations in his liver function tests, suggesting possible liver involvement. A skeletal muscle biopsy demonstrated vacuolar myopathic changes (acid phosphatase negative) accompanied by focal endomysial fibrosis and chronic inflammation. An ultrastructural examination showed that his vacuoles were filled with glycogen material. An enzyme assay of skeletal muscle tissue showed a significant decrease in debrancher enzyme activity (11% of normal). We review the typical clinical presentation of patients with glycogenosis III and discuss the differential diagnoses of glycogenosis III versus the other glycogenoses resulting in vacuolar myopathy.
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PMID:Pathological characteristics of glycogen storage disease III in skeletal muscle. 2606 41