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:3.2.1.20 (alpha-glucosidase)
4,237 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The mild, generalized myopathy (glycogenosis type II) of a 23-year-old male, previously thought to have progressive muscular dystrophy, was studied clinically, electro-myographically, biochemically and with light- and electron microscopes. However, the history and clinical aspects, as well as the registration of high frequency discharges in the electromyogram first made the diagnosis uncertain. This kind of spontaneous activity has been found in nearly all cases reported in the literature. Light microscopic and histochemical examinations show vacular degeneration and glycogen storage in muscle fibres. With the electron microscope we found free dispersed glycogen in the cytoplasm and membrane-bound glycogen, glycogen-filled lysosomes. Biochemical measurements of the muscle enzymes, involved in the glycogen breakdown, were normal except for acid alpha-1,4-glucosidase, which was deficient. The evidence of these findings in this abortive form of glycogenosis type II is discussed and compared with the few cases found in the literature.
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PMID:The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult. 5 76

Leptomeres, the laminated structures consisting of bundles of very fine filaments separated into bands about 260 nm wide by periodic transverse dense lines 20--80 nm wide, were observed frequently in cultured muscle fibers of 8 patients with acid maltase deficiency, 4 with sporadic, adult-onset idiopathic "autophagic" vacuolar myopathy (that is not acid-maltase deficient) and one with abnormal mitochondria, but in only one of greater than 50 other cultures of normal and denervated human muscle. They were also induced abundantly in cultured normal human muscle by exposure to 0.5 mM DNP.
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PMID:Leptomeres in cultured human muscle. 35 7

3 adult women with distinct clinical pictures of progressive myopathy were studied. The morphological findings of biopsied skeletal muscle suggested the diagnosis of type II glycogenosis. Biochemical analysis confirmed a profound deficiency of alpha-1,4-glucosidase activity. Electrophoresis of muscle acid maltase showed the presence of one band in normal individuals. A very faint band with normal electrophoretic mobility was present in the patients' muscles. Muscle neutral maltase is composed of four bands in normal adult individuals: two of the four bands were clearly reduced in the muscles of the patients. The acid and neutral maltases were not significantly reduced in the patients' leukocytes. Acid maltase determination in urine made it possible to identify the homozygous, but not to completely segregate the heterozygous, from unaffected adult subjects.
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PMID:Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients. 35 52

In a postmortem study of a patient with adult-onset acid maltase deficiency (AMD), morphological abnormalities were confined to skeletal muscle and consisted of a vacuolar myopathy. Acid maltase activity, however, was approximately 6% of normal in muscle, liver, and brain, and 3% of normal in heart. Kinetic characteristics, and inhibition by antibodies and Zn++, showed that the residual activity was "authentic" acid maltase. Neutral maltase activity was normal in muscle and liver, but decreased in brain (55% of normal) and heart (19% of normal). Although the relative decrease of acid maltase was similar in different tissues, absolute residual activity was lowest in skeletal muscle: this may explain the selective involvement of this tissue in late-onset AMD.
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PMID:Adult-onset acid maltase deficiency: a postmortem study. 37 69

The authors report an uncommon case of type II glycogenosis. An 8-year-old boy developed a slow progressive myopathy. Biopsy of skeletal muscle showed scarce lesions under the optic microscope but in 50% of the fibers the presence of vacuoles filled with glycogen under the electron microscope. Ultrastructural analysis of fibroblasts in culture showed numerous vacuoles filled with glycogen, characteristic of type II glycogenosis. Enzymatic analysis revealed that acid-alpha-glucosidase activity was normal in muscle tissues but deeply deficient in leukocytes and fibroblasts in culture. This is, as far as we know, the first case with such a discrepancy in the distribution of the enzymatic activity, and it underlines the necessity of investigating several tissues in atypical cases.
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PMID:Uncommon case of type II glycogenosis. 38 41

Daytime breathing problems caused by neurologic lesions always worsen during sleep, and in certain cases abnormal breathing patterns are only seen during sleep or specific sleep states. The first clinical manifestation of maltase deficiency, myopathy, or myotonic dystrophy is often a sleep-related complaint, such as unexplained waking from sleep (insomnia) or daytime somnolence. Thus, systematic investigation during sleep of disorders impairing the loop involved in breathing is strongly encouraged. Lesions may involve sensory receptors, sensory pathways, brainstem-controlling neurons, upper motor neurons, descending motor pathways, lower motor neurons, motor nerves, neuromuscular junctions, or respiratory muscles. Most of these lesions lead to a decrease in or absence of inspiratory efforts (diaphragmatic apnea or hypopnea) during sleep. These events differ from the classic obstructive sleep apnea syndrome and the recently described upper airway resistance syndrome, which usually involve mild or significant anatomic abnormalities of the upper airway and craniofacial region. The treatment of abnormal breathing during sleep has been improved by the development of nasal ventilation methods: continuous positive airway pressure, intermittent positive pressure, and volume ventilation. These therapeutic approaches can prevent tracheostomy and diaphragmatic pacing and are more efficacious than drug treatments. Long-term compliance is generally much better in breathing disorders secondary to neurologic impairments than in cases of mild to moderate obstructive sleep apnea.
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PMID:Sleep-related obstructive and nonobstructive apneas and neurologic disorders. 163 Jun 39

A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old infant boy seen with hypotonia, weakness, and developmental regression. Histochemistry and electron microscopy revealed a vacuolar myopathy with massive glycoge accumulation associated with increased neutral lipid as demonstrated on Oil Red O reactions. Pleomorphic, hypertrophic mitochondria with distortion of cristae and electron-dense deposits within the matrix were identified. Acid alpha-1,4-glucosidase activity was absent but associated with increased neutral maltase activity and a variable compensatory rise in activity of other lysosomal enzymes. Biochemical studies demonstrated low free carnitine, normal acylcarnitine, increased activity of carnitine palmityl and acyl transferases, and other enzymes of beta-oxidation with the notable exception of low normal beta-hydroxyacyl-CoA dehydrogenase activity. The explanation for the lipid accumulation is uncertain but is likely related to the combination of low carnitine concentration in muscle, low beta-hydroxyacyl CoA dehydrogenase, representing a rate limiting enzyme of beta-oxidation, and nonspecific defective mitochondrial function.
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PMID:Infantile Pompe's disease, lipid storage, and partial carnitine deficiency. 187 Jun 35

A case of 25-year-old woman with glycogen storage myopathy is reported here. She was hospitalized for acute heart failure after alcohol drinking. The electrocardiogram on admission showed marked ST elevation. Laboratory data showed elevated levels of serum myogenic enzymes but no rise in cardiomyogenic enzyme: CK 3862 IU/l CK-MB 35 IU/l, LDH 427 IU/l, GOT 203 IU/l. After several days, she recovered from acute heart failure and could walk without supporting. ST elevation in ECG and elevated myogenic enzymes were also normalized. The occurrence of acute myocardial infarction was ruled out because a coronary angiogram and 99 Tcm scintigram were normal. Physical examination revealed proximal muscular weakness and mental retardation (WAIS, total 72). Venous lactate response was normal after semi-ischemic forearm exercise. PAS staining of muscle specimen showed an excess deposit of glycogen. Ragged-red fibers were not seen on Gomori-trichrome stain. By electron microscopy, a large amount of glycogen particles were demonstrated in the subsarcolemma, but there were no abnormal mitochondrial changes. Biochemical analysis showed accumulation of glycogen in muscles: 28.7 mg/g muscle (normal 11.4 +/- 4.2 mg/g muscle). The activities of enzyme in the pathway of glycogen and glycogenosis (alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase a, phosphorylase kinase, phosphofructokinase, etc.) were within normal limits. The spectrum of glycogen iodine complex was normal. Our case was different from any type of muscle glycogen storage disease previously reported. The etiology of an excess of glycogen deposit in muscles is unknown.
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PMID:[A case of glycogen storage myopathy with acute heart failure]. 220 34

Three patients, 72, 45 and 18 years old belonging to 3 successive generations presented with respiratory insufficiency. The clinical onset was at about 40 years of age in the two older patients and at 18 years in the youngest one. Serum enzymes of muscle origin were within normal range as well as leucocyte maltase activity. The muscle biopsy in all three patients showed numerous cytoplasmic (spheroid) bodies within type I muscle fibers. Familial cytoplasmic body myopathy with familial incidence has rarely been reported and still more rarely has been revealed by respiratory insufficiency in adult life.
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PMID:[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]. 255 61

We report a study of an adult with a maltase acid deficiency myopathy. A restrictive respiratory syndrome due to respiratory muscle weakness is associated with paralysis of other muscular groups. In 1982 the patient presented with an alveolar hypoventilation, and mechanical ventilation was required after acute respiratory failure. The patient has received nocturnal mechanical ventilation by tracheostomy at home for 5 years. His clinical status gradually improved in parallel to amelioration of his respiratory condition. Functional respiratory tests improved: initial hypoxia-hypercapnia disappeared, vital capacity increased. The possible mechanisms underlying the improvement are discussed. Increase in pulmonary compliance is an argument to explain the functional improvement observed. Ventilatory response to carbon dioxide was abnormal whereas the ventilatory response to exercise and maxima minute ventilation test were normal. Results are consistent with a respiratory control impairment. The role of mechanical ventilation is difficult to assess in the improvement we observed.
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PMID:Adult maltase acid deficiency myopathy: treatment with long-term home mechanical ventilation. 305 36


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