5C55.00

ICD-11 MMS 2026-01

Xanthinuria

Description

Xanthinuria is a rare autosomal recessive disorder associated with a deficiency in xanthine dehydrogenase (XDH - also referred to as xanthine oxidoreductase, XOR), which normally catalyses the conversion of hypoxanthine and xanthine to uric acid. In humans NAD+ is the electron acceptor and significant activity is confined to liver and intestinal mucosa. Irreversible conversion to oxidase occurs during ischaemia. The preferential accumulation/excretion of xanthine in plasma and urine results from extensive hypoxanthine recycling by the salvage pathway for which xanthine is not a substrate in humans: excess xanthine deriving from guanine via guanine deaminase.

Index terms

  • Xanthinuria
  • Classical xanthinuria
  • Xanthic urolithiasis
Show allHide
  • Xanthine stone disease
  • xanthine calculus
  • Xanthinuria type 1
  • Isolated hereditary xanthinuria
  • Isolated xanthine dehydrogenase deficiency
  • Isolated xanthine oxidase deficiency
  • Isolated xanthine oxidoreductase deficiency
  • hereditary xanthinuria
  • Xanthinuria type 2
  • Xanthine dehydrogenase and xanthine aldehyde oxydase dual deficiency

Exclusions from above levels

  • GB70.0 – Calculus of kidney
  • LD27.1 – Xeroderma pigmentosum
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
Show allHide
  • 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

  • 5C55.01 – Lesch-Nyhan syndrome
  • 5C55.0Y – Other specified disorders of purine metabolism
  • 5C55.0Z – Disorders of purine metabolism, unspecified

Foundation entity

Xanthinuria – http://id.who.int/icd/entity/1565213608

Part of: 5C55.0: Disorders of purine metabolism › 5C55: Inborn errors of purine, pyrimidine or nucleotide metabolism › 05: Endocrine, nutritional or metabolic diseases