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)

7 infants, aged 5 weeks to 11 months, with clinically documented intolerance to cow's milk protein, chronic diarrhea, and failure to thrive, underwent small intestinal (peroal, suction) biopsy before and after withdrawal of milk proteins. Mucosal specimens were examined by light microscopy and assayed for disaccharidase activities. In all patients, moderate to severe mucosal changes were presented, associated with marked inflammation of lamina propria and damages to the brushborder. Disaccharidase activities (lactase, sucrase, maltase and palatinase) were markedly depressed in all. Follow-up biopsies were obtained in 6 infants, after 3-5 months on a milk-protein-free diet. At the time of the second biopsy, the disaccharidase activities had risen significantly and histologic improvement had occurred in each instance. In infancy, intestinal mucosal lesions due to intolerance to cow's milk protein are histologically indistinguishable from those seen in gluten-sensitive enteropathy and are associated with marked secondary disaccharidase deficiencies. Following therapy, the activity of the disaccharidases become normal or near normal prior to the complete morphologic recovery of the small intestinal mucosa.
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PMID:Disaccharidase deficiency in infants with cow's milk protein intolerance. Response to treatment. 62 28

The results of studies on disaccharidase activities and on intestinal absorption in cases of complete and incomplete congenital small bowel obstruction are presented. Assays of the activities of maltase, isomaltase, sucrase, trehalase, and lactase have been performed on biopsy specimens taken at the time of surgery. In specimens taken from above the site of obstruction, the activities are reduced for all disaccharidases, and are particularly low for trehalase and lactase. There was no difference between the cases with complete and incomplete obstruction. Distal to a complete obstruction, trehalase and lactase were reduced, whereas in cases of incomplete obstruction, the activities of all disaccharidases were within what is considered normal in the reference material. Two months after surgery, the disaccharidase activities were found to be normal. One month after surgery, the absorption of glucose and vitamin A was markedly impaired in cases with complete obstruction, whereas that of D-xylose was not significantly reduced from normal. In cases with incomplete obstruction, the results did not differ from those found in normal infants. The fact that failure to thrive is common during the first months after birth in patients with congenital intestinal atresia, even when surgery is successful, may be explained by deficient intestinal absorption, particularly in patients with complete obstruction.
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PMID:Disaccharidase activities and intestinal absorption in infants with congenital intestinal obstruction. 312 31

Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a continuous spectrum but for clinical practice different subtypes are recognized. The classic infantile form of the disease occurs in infants (shortly after birth) and is characterized by generalized hypotonia, failure to thrive, and cardiorespiratory failure. Patients usually die within the first year of life. The non-classic or late-onset form of the disease may occur at any age in childhood or adulthood. It presents predominantly as a slowly progressive proximal myopathy, with or without respiratory failure. Enzyme replacement therapy (ERT) is under study as treatment for the disease. The first results with recombinant human alpha-glucosidase are promising and a registered therapy seems near. Beneficial effects of ERT have been reported both in patients with the classic infantile form as well as in patients with the non-classic or late-onset form of the disease. The best therapeutic results are achieved when ERT is started early in the course of symptom development and before irreversible muscular damage has occurred. Detailed knowledge about the natural course of the disease becomes more and more essential to determine the indication and timing of treatment.
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PMID:Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. 1689 58