Citrin deficiency (Q88506): Difference between revisions
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A deficiência de citrina é um defeito autossômico recessivo raro do ciclo da ureia caracterizado clinicamente por episódios recorrentes de hiperamonemia e sintomas neuropsiquiátricos na forma de início na idade adulta (citrulinemia tipo 2), e por colestase transitória e disfunção hepática variável na forma neonatal (colestase intra-hepática neonatal devido à deficiência de citrina). | |||
| description / en | description / en | ||
Citrin deficiency is a rare autosomal recessive urea cycle defect characterised clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, ), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, ). | |||
Revision as of 14:45, 15 August 2026
Citrin deficiency is a rare autosomal recessive urea cycle defect characterised clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, ), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, ).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_348535193 |
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| English | Citrin deficiency |
Citrin deficiency is a rare autosomal recessive urea cycle defect characterised clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, ), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, ). |
