Leukotriene C4 synthase deficiency
MeSH: C565439ORPHA: 79507
Overview
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C565439Orphanet Code
ORPHA:79507Leukotriene C4 synthase deficiency
| MeSH | C565439 |
| Orphanet | ORPHA:79507 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO