Citrullinaemia type 1 (Q88501)
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Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1410274578 |
||
| English | Citrullinaemia type 1 |
Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ). |
Statements
CID11:ID_1410274578
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