glycogen storage disease Ib

glycogen storage disease Ib

Glucose-6-phosphate transport defect Metabolic disease An AR metabolic disorder due to mutation in the microsomal transport system for glucose-6-phosphatase in hepatocytes Clinical Growth failure, hypoglycemia, lactic acidosis, oral and anal lesions, chronic IBD, neutropenia, recurrent infections, impaired neutrophil chemotaxis and metabolism Treatment GM-CSF may reverse Sx
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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