5C50.F1

ICD-11 MMS 2026-01

Carnosinaemia

Description

Carnosinaemia is a very rare inherited disorder of the metabolism of peptides that presents with serum carnosinase deficiency, variable degrees of intellectual deficit, sometimes with seizures, while a few patients are asymptomatic.

Index terms

  • Carnosinaemia
  • Aminoacyl-histidine dipeptidase deficiency
  • Carnosinase deficiency
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  • Carnosinuria

Exclusions from above levels

  • 5C59.1 – Disorders of gamma aminobutyric acid metabolism
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
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  • 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

  • 5C50.F0 – Prolidase deficiency
  • 5C50.F2 – Homocarnosinosis
  • 5C50.FY – Other specified disorders of peptide metabolism
  • 5C50.FZ – Disorders of peptide metabolism, unspecified

Foundation entity

Carnosinaemia – http://id.who.int/icd/entity/486093841

Part of: 5C50.F: Disorders of peptide metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases