holocarboxylase synthetase deficiency
MeSH: D028922ORPHA: 79242
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with holocarboxylase synthetase deficiency, sourced from HPO and Orphanet clinical annotations.
IrritabilityKeratoconjunctivitisSeizureHypotoniaGrowth delayWeight lossNausea and vomitingAnorexiaPerioral eczemaHyperammonemiaOrganic aciduriaRespiratory distressTachypneaEczematoid dermatitisAtaxiaLethargyComaAlopeciaThrombocytopeniaDesquamation of skin soon after birth
Classification & Codes
MeSH Code
D028922Orphanet Code
ORPHA:79242holocarboxylase synthetase deficiency
| MeSH | D028922 |
| Orphanet | ORPHA:79242 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO