long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
ORPHA: 5
Overview
medical condition
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 long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
PhotophobiaHypoglycemiaHypoketotic hypoglycemiaAbnormal electroretinogramVisual lossExotropiaHypotoniaGlobal developmental delayHypertrophic cardiomyopathyAbnormality of metabolism/homeostasisHepatomegalyPeripheral neuropathyRetinopathyAbnormal chorioretinal morphologyChorioretinal atrophyMyopiaNyctalopiaIntellectual disabilitySeizureGeneralized hypotoniaFailure to thriveCholestatic liver diseaseAbnormal retinal pigmentationFeeding difficultiesPosterior staphyloma
Classification & Codes
Orphanet Code
ORPHA:5long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
| Orphanet | ORPHA:5 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO