| 释义 |
glycogen storage disease Ic glycogen storage disease Ic Metabolic disease A rare AR metabolic disorder caused by mutations in glucose-6-phosphate translocase gene Clinical Impaired carbohydrate tolerance, glycosuria, neutropenia, neutrophil dysfunction, hypoglycemia, hepatomegaly, fasting intolerance, ↑ lactic acid, recurrent infections, stomatitis, IBD |