Maltase-glucoamylase deficiency

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.

Also indexed as

Nearby in Disorders of carbohydrate absorption or transport

• 5C61.0Glucose-galactose malabsorption
• 5C61.2Congenital sucrase-isomaltase deficiency
• 5C61.3Alpha, alpha trehalase deficiency
• 5C61.4Acquired monosaccharide malabsorption
• 5C61.5Disorders of facilitated glucose transport
• 5C61.6Lactose intolerance
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified