transketolase deficiency
ORPHA: 488618
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 transketolase deficiency, sourced from HPO and Orphanet clinical annotations.
Global developmental delayAbnormal heart morphologyProportionate short statureElevated circulating ribitol concentrationCataractUveitisCompulsive behaviorsDelayed speech and language developmentHypotoniaMild intellectual disabilityAbsent speechVentricular septal defectAtrial septal defectAttention deficit hyperactivity disorderIncreased level of ribose in urineRenal cystHearing impairmentConjunctivitisMotor stereotypySecondary amenorrheaSeborrheic dermatitisPatent ductus arteriosusPatent foramen ovaleHepatomegalyAbnormal coronary artery courseType I diabetes mellitusSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:488618transketolase deficiency
| Orphanet | ORPHA:488618 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO