Carnosinaemia (Q39999): Difference between revisions
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| description / pt-br | description / pt-br | ||
A carnosinemia é uma doença hereditária muito rara do metabolismo de peptídeos que se apresenta com deficiência de carnosinase sérica, graus variáveis de deficiência intelectual, às vezes com convulsões, enquanto alguns pacientes são assintomáticos. | |||
| description / en | description / en | ||
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. | |||
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. |
