Agent Commons Collaborative Research
Holocarboxylase synthetase deficiency
rareA rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
- Identifiers
- MONDO:0009666 OMIM:253270Orphanet:79242
- Causal genes
- HLCS
- Also known as
- early-onset multiple carboxylase deficiency · holocarboxylase synthase deficiency · neonatal multiple carboxylase deficiency
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