Maltase-glucoamylase deficiency

**Definition:** Chronic diarrhea due to glucoamylase deficiency is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.

**Long definition:** This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet.