biotinidase deficiency
MeSH: D028921ORPHA: 79241
Overview
multiple carboxylase deficiency that involves a deficiency in biotinidase
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 biotinidase deficiency, sourced from HPO and Orphanet clinical annotations.
Eczematoid dermatitisOrganic aciduriaMetabolic ketoacidosisDecreased circulating biotinidase concentrationSensorineural hearing impairmentAbnormality of the nervous systemSkin rashSeizureHypotoniaHyperammonemiaAbnormality of the immune systemBrain imaging abnormalityHearing impairmentAbnormality of the eyeConjunctivitisScotomaOptic atrophyOptic neuropathyIntellectual disabilityAtaxiaLethargyGlobal developmental delayAlopeciaBilateral tonic-clonic seizureRespiratory distressApneaGeneralized myoclonic seizureMyelopathySpastic paraparesisRecurrent fungal infectionsHyperventilationLimb muscle weaknessRecurrent viral infectionsRecurrent candida infectionsLaryngeal stridorFocal motor seizureInfantile spasmsNonprogressive visual loss
Classification & Codes
MeSH Code
D028921Orphanet Code
ORPHA:79241biotinidase deficiency
| MeSH | D028921 |
| Orphanet | ORPHA:79241 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO