de Parscau L, Guibaud P, Maire I
Unité d'étude des maladies métaboliques, Hôpital Debrousse, Lyon.
Pediatrie. 1988;43(8):661-5.
In type 1 glycogen storage diseases, glucose-6-phosphatase may be present but associated with impaired transport of glucose-6-phosphate (type 1b) or inorganic phosphate (type 1c) through microsomal membranes. The type 1c is very rare (2 published cases). The more frequent type 1b presents all the clinical manifestations of type 1a and specific signs: recurrent stomatitis, frequent infections, chronic inflammatory bowel disease secondary to neutropenia and neutrophil dysfunction. Glucose-6-phosphatase activity is low when measured on fresh liver tissue, but is restored after detergent treatment. A good metabolic control does not influence neutropenia and its consequences.
在1型糖原贮积病中，葡萄糖-6-磷酸酶可能存在，但与葡萄糖-6-磷酸（1b型）或无机磷酸（1c型）通过微粒体膜的转运受损有关。1c型非常罕见（有2例报道）。较常见的1b型具有1a型的所有临床表现及特定体征：复发性口腔炎、频繁感染、继发于中性粒细胞减少和中性粒细胞功能障碍的慢性炎症性肠病。在新鲜肝组织上检测时，葡萄糖-6-磷酸酶活性较低，但经去污剂处理后可恢复。良好的代谢控制对中性粒细胞减少及其后果无影响。
