Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of 38-year-old male with adult onset phosphoglucomutase (PGM) deficiency was reported. The patient was admitted at Kawamura Hospital (Gifu City) for evaluation of easy fatiguability and exercise-induced weakness of the extremities since he was 20 years old. Physical examination revealed moderate muscle weakness, wasting of extremities, bilateral clubbed fingers and hypoesthesia of distal portion of extremities. Fasting plasma glucose was low (58 mg/dl). Venous concentration of lactate failed to rise after an ischemic forearm exercise test. An epinephrine tolerance test revealed hyperglycemic response. Studies of anaerobic glycolysis in vitro using muscle homogenates with the substrate between glucose-1-phosphate and glucose-6-phosphate showed decreased lactate production. Direct assay of individual muscle glycolytic enzymes demonstrated reduction of PGM activity (15% of normal, n = 12). Biopsy study with PAS staining of quadriceps femoris muscle demonstrated small amount of deeply staining glycogen in subsarcolemmal area. Electron microscopic examination revealed muscle destruction with small amount of glycogen in subsarcolemmal and intermyofibrillar spaces. Sural nerve biopsy showed degeneration of myelinated and unmyelinated fibers but there was no apparent accumulation of glycogen. From the clinical, biochemical and histopathological evidences, the patient might be a rare case of adult onset PGM deficiency.
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PMID:[A case of adult onset phosphoglucomutase deficiency]. 138 70