ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 — Inborn errors of amino acid or other organic acid metabolism
5C50.F — Disorders of peptide metabolism
5C50.F1 — Carnosinaemia
ICD-11 5C50.F1 — Carnosinaemia
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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: