Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency (Q59572)
From determinar.ia.br - Determine suas informações
Holocarboxylase synthetase deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterised by vomiting, tachypnoea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1184113045 |
||
| English | Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency |
Holocarboxylase synthetase deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterised by vomiting, tachypnoea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. |
Statements
CID11:ID_1184113045
0 references
dki-india-ID_1184113045
0 references
