5C61.2

ICD-11 MMS 2026-01

Congenital sucrase-isomaltase deficiency

Description

Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides. CSID is transmitted as an autosomal recessive trait and is caused by mutations in the brush-border membrane complex sucrase-isomaltase (SI), which is required for the breakdown of sucrose and starch into monosaccharides. The SI deficiency results in an accumulation of disaccharides in the lumen, causing osmotic diarrhoea. The prognosis for patients is good as the starch intolerance usually resolves during the first few years of life and sucrose intolerance usually improves with age.

Index terms

  • Congenital sucrase-isomaltase deficiency
  • CSID - [Congenital sucrase-isomaltase deficiency]
  • Congenital sucrose intolerance
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  • Congenital sucrose-isomaltose malabsorption
  • Disaccharidase deficiency
  • Disaccharide intolerance type I
  • Invertase deficiency
  • Sucrase-alpha-dextrinase deficiency
  • disaccharide malabsorption
  • intestinal disaccharidase deficiency
  • sucrase deficiency
  • sucrose intolerance
  • sucrose intolerance of newborn

Exclusions from above levels

  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
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  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C61.0 – Glucose-galactose malabsorption
  • 5C61.1 – Maltase-glucoamylase deficiency
  • 5C61.3 – Alpha, alpha trehalase deficiency
  • 5C61.4 – Acquired monosaccharide malabsorption
  • 5C61.5 – Disorders of facilitated glucose transport
  • 5C61.6 – Lactose intolerance
  • 5C61.Y – Other specified disorders of carbohydrate absorption or transport
  • 5C61.Z – Disorders of carbohydrate absorption or transport, unspecified

Foundation entity

Congenital sucrase-isomaltase deficiency – http://id.who.int/icd/entity/1817406536

Part of: 5C61: Disorders of carbohydrate absorption or transport › 05: Endocrine, nutritional or metabolic diseases