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
Full browser ?