aromatic L-amino acid decarboxylase deficiency
MeSH: C537437ORPHA: 35708
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 aromatic L-amino acid decarboxylase deficiency, sourced from HPO and Orphanet clinical annotations.
Global developmental delayDecreased CSF homovanillic acid concentrationDecreased CSF 5-hydroxyindolacetic acid concentrationAtypical behaviorIrritabilityHyperhidrosisIntellectual disabilitySeizureHypotoniaMotor delayDystoniaFailure to thriveGastroesophageal refluxSleep disturbancePoor head controlOculogyric crisisFeeding difficultiesPtosisMiosisAutistic behaviorIncreased circulating prolactin concentrationDysarthriaReduced tendon reflexesNasal congestionHypoglycemiaDysphagiaConstipationDroolingEEG abnormalityHypokinesiaLimb hypertoniaHypotensionBabinski signShort statureDyskinesiaTremorDiarrheaJoint contracture
Classification & Codes
MeSH Code
C537437Orphanet Code
ORPHA:35708aromatic L-amino acid decarboxylase deficiency
| MeSH | C537437 |
| Orphanet | ORPHA:35708 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO