maple syrup urine disease
MeSH: D008375ORPHA: 511
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 maple syrup urine disease, sourced from HPO and Orphanet clinical annotations.
Abnormality of the pharynxIntellectual disabilitySeizureAtaxiaHypotoniaGlobal developmental delayReduced tendon reflexesAbnormality of the voiceRespiratory insufficiencyHemiplegia/hemiparesisElevated circulating branched chain amino acid concentration
Classification & Codes
MeSH Code
D008375Orphanet Code
ORPHA:511maple syrup urine disease
| MeSH | D008375 |
| Orphanet | ORPHA:511 |
| Treatments | 0 drug(s) |
| Symptoms on record | 11 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO