Carnosinaemia (Q39999): Difference between revisions
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Revision as of 05:38, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.F1 |
||
| English | 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. |
Statements
CID11:5C50.F1
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dki-india-5C50.F1
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