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Blood glucose failed to respond to epinephrine or glucagon, and venous lactate did not rise after ischemic exercise. Muscle biopsy showed vacuolar myopathy affecting both fiber types. By electron microscopy the vacuoles corresponded to large pools of glycogen not limited by a membrane. Glycogen concentration was 3 to 5 times normal in muscle and 7 to 21 times normal in erythrocytes. In the presence of iodine, muscle glycogen showed a spectrum characteristic of phosphorylase\u2010limit\u2010dextrin. Debrancher activity was measured by a spectrophotometric assay and by a radioactive reverse reaction. The activity was lacking in muscle and erythrocytes of 4 patients according to both assays; in 1 patient the reverse reaction was not impaired.<\/jats:p><jats:p>Though previously reported in only 5 patients, debrancher deficiency myopathy may not be rare and should be considered in the differential diagnosis of adult\u2010onset hereditary myopathies.<\/jats:p>","DOI":"10.1002\/ana.410050504","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:51:06Z","timestamp":1104598266000},"page":"422-436","source":"Crossref","is-referenced-by-count":136,"title":["Debrancher deficiency: Neuromuscular disorder in 5 adults"],"prefix":"10.1002","volume":"5","author":[{"given":"Salvatore","family":"DiMauro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geoffrey B.","family":"Hartwig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur","family":"Hays","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham B.","family":"Eastwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Franco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo","family":"Olarte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myung","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen D.","family":"Roses","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Fetell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard S.","family":"Schoenfeldt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence Z.","family":"Stern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"265","article-title":"Muscular glycogenosis type III in a 15\u2010year\u2010old boy","volume":"8","author":"Badurska G","year":"1970","journal-title":"Neuropatol Pol"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(75)80254-7"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1964.tb00934.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.3.221"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1973.tb47576.x"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1971.00490020089011"},{"key":"e_1_2_1_8_2","first-page":"422","article-title":"Debrancher enzyme activity in blood cells of families with type III glycogen storage disease","volume":"3","author":"Chayoth R","year":"1967","journal-title":"Isr J Med Sci"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0021-9258(18)56141-X","article-title":"Action of amylo\u20101,6\u2010glucosidase and phosphorylase on glycogen and amylopectin","volume":"188","author":"Cori GT","year":"1951","journal-title":"J Biol Chem"},{"key":"e_1_2_1_10_2","first-page":"123","article-title":"Disorders of glycogen and lipid metabolism","volume":"17","author":"DiMauro S","year":"1977","journal-title":"Adv Neurol"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(71)90494-2"},{"key":"e_1_2_1_12_2","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/S0021-9258(18)76122-X","article-title":"Spectrophotometric studies: I. 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