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5C50.F1 Carnosinaemia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

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

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