5C51.50

ICD-11 MMS 2026-01

Hereditary fructose intolerance

Description

Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterised by severe abdominal pain, vomiting, and hypoglycaemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate.

Index terms

  • Hereditary fructose intolerance
  • ALDB - [aldolase B] deficiency
  • Aldolase B deficiency
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  • Fructosaemia
  • Fructose intolerance
  • Hereditary fructosaemia
  • Hereditary fructose-1-phosphate aldolase deficiency
  • deficiency of fructose-bisphosphate aldolase
  • fructose intolerance of newborn
  • fructose-1,6-bisphosphate aldolase b deficiency (disorder)
  • fructose-1-phosphate aldolase deficiency
  • fructose-biphosphate aldolase b deficiency

Excludes

Exclusions from above levels

  • 5A41 – hypoglycaemia NOS
  • 5A42 – Increased secretion of glucagon
  • 5C56.3 – Mucopolysaccharidosis
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  • http://id.who.int/icd/entity/465177735 – Diabetes mellitus
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
  • 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

  • 5C51.5Y – Other specified disorders of fructose metabolism
  • 5C51.5Z – Disorders of fructose metabolism, unspecified

Foundation entity

Hereditary fructose intolerance – http://id.who.int/icd/entity/1925240365

Part of: 5C51.5: Disorders of fructose metabolism › 5C51: Inborn errors of carbohydrate metabolism › 05: Endocrine, nutritional or metabolic diseases