Carnosinaemia (Q39999)
From determinar.ia.br - Determine suas informações
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. |
