Disease relevance of Glycogen Storage Disease Type VI

• Historical and laboratory evidence indicated that the substance was pyridostigmine bromide, a low-molecular-weight drug with which the patient had been treated after her disease was misdiagnosed as myasthenia gravis [1].
• A patient with systemic lupus erythematosus developed pulmonary haemorrhage and pulmonary infarction as rare initial manifestations of her disease [2].
• We report a patient with pulmonary blastomycosis who suffered relapse with dissemination of her disease after five months of apparent response to therapy with ketoconazole, 400 mg daily [3].
• The case of a 33-year-old white female with an endodermal sinus tumor of the ovary who manifested remission of her disease as a result of the intermittent administration of chlorambucil is described [4].
• During the 8-year course of her disease, she had an ACTH-producing pituitary carcinoma requiring two transsphenoidal procedures and resection of a metastatic cervical lymph node [5].

High impact information on Glycogen Storage Disease Type VI

• On three separate occasions her disease relapsed when cyclophosphamide therapy was discontinued [6].
• Our findings demonstrate that PYGL mutations cause Hers disease, and they may improve laboratory diagnosis of deficiencies of the liver phosphorylase system [7].
• We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease [7].
• The flushing improved with steroid therapy, as did some of the other clinical features of her disease [8].
• In the first patient the UBBC level fell during a partial remission induced by adriamycin therapy and in the second patient UBBC levels rose with progression of her disease [9].

Chemical compound and disease context of Glycogen Storage Disease Type VI

• Two patients with autoimmune adrenalitis failed to respond to theophylline, although one was tested very early in the course of her disease [10].
• An estimation of her daily diazinon dose and possible correlation with her disease was made [11].
• Her disease remained active despite surgical resection, external beam irradiation and medical treatment with ketoconazole [5].
• We report on a patient with bullous systemic lupus erythematosus who initially presented with lesions clinically resembling erythema multiforme, experienced exacerbation of her disease with dapsone, and had detectable circulating autoantibodies to the epidermolysis bullosa acquisita antigen [12].
• Thus the extremely low C4 level during her disease may result from a combination of genetically determined low normal C4 and increased consumption/hyposynthesis secondary to her SLE [13].

Gene context of Glycogen Storage Disease Type VI

• Her disease activity correlated with the dosage of IFN-alpha [14].
• The level of VWF-cleaving protease activity in the patient was remarkably low (<5%) throughout her disease, even after she entered complete remission [15].
• Pretreatment prolactin values, which were higher than normal, dramatically decreased by 90% in one patient who had a partial remission of her disease, and they further increased in another patient who relapsed while on therapy [16].
• A 21-year-old woman with long-standing systemic lupus erythematosus developed extensive calcification of the soft tissues of the thoracic and abdominal walls and extremities early in her illness, and these calcifications gradually disappeared over the course of her disease [17].
• A 71-year-old patient presented with SS and developed vitiligo during the course of her disease [18].

Analytical, diagnostic and therapeutic context of Glycogen Storage Disease Type VI

• Extended field radiation therapy to the pelvis and paraaortic nodes with concomitant cisplatin and adjuvant chemotherapy failed to control her disease [19].
• She received systemic chemotherapy, gonadotropin-releasing hormone agonist therapy, and palliative radiation therapy, but her disease progressed [20].
• Furthermore, we analyzed the patient during different stages of her disease by RT-PCR and determined the type of bcr-abl junctions (M bcr-abl junction; b3a2 transcript, p210) in both the recipient and donor cell leukemia [21].

References