GYCOGEN STORAGE DISEASE TYPE Ib AND REGIONAL ENTERITIS

Abstract

Glycogen storage disease (GSD) type Ib is a recently recognized variant with clinical features similar to GSD type Ia (glucose-6-phosphatase deficiency). In type Ib the transport of glucose-6-phosphate into hepatic microsomes is deficient. Neutropenia, a neutrophil (N) chemotactic defect, recurrent oral and anal mucosal lesions are characteristic. Inflammatory bowel disease has not been reported in GSD although abdominal pain is common. We investigated abdominal pain in 2 boys, ages 11 and 14 yrs, with biopsy-proven GSD type Ib. Both had mucosal lesions and gingivitis for 7-8 yrs. The older boy had 7 kg weight loss and growth failure. Both had neutropenia, anemia, hypoalbuminemia and increased erythrocyte sedimentation rates. Barium contrast studies showed irregularity of the distal ileal mucosa and fixed 50% narrowing of the cecum, indicative of regional enteritis (RE). Fecal alpha-l-antitrypsin was markedly increased in the older boy. He had a right colectomy for obstruction. The appearance of the bowel at surgery and on microscopic examination was totally consistent with regional enteritis (Crohn's disease). Skin tests for tuberculosis and stool examinations for pathogens were negative.

CONCLUSIONS: An association between RE and GSD type Ib is likely. The primary metabolic defect in GSD type Ib appears to involve N causing decreased chemotaxis. Since deficient N migration to inflammation is characteristic of RE, N dysfunction may play a role in both forms of enteritis.

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