alpha-N-acetylgalactosaminidase deficiency type 3
ORPHA: 792811 Treatment Available
Overview
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| laronidase Orphan Cold Chain | IV infusion, 0.58 mg/mL | FDA Approved, EMA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with alpha-N-acetylgalactosaminidase deficiency type 3, sourced from HPO and Orphanet clinical annotations.
StrabismusCataractAutismIntellectual disabilitySeizureGlobal developmental delayHypertrophic cardiomyopathyHepatomegaly
Classification & Codes
Orphanet Code
ORPHA:79281alpha-N-acetylgalactosaminidase deficiency type 3
| Orphanet | ORPHA:79281 |
| Treatments | 1 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO