Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients.
Lucchiari
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Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.
Santoro
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Pagliarani
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Comi
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D004032:Diet; D005260:Female; D005838:Genotype; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D007558:Italy; D008297:Male; D010641:Phenotype
D006004:Glycogen Debranching Enzyme System