galactose-1-phosphate uridylyltransferase deficiency
ICD-10: E74.2ORPHA: 79239
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 galactose-1-phosphate uridylyltransferase deficiency, sourced from HPO and Orphanet clinical annotations.
Abnormality of the nervous systemMale infertilityAbnormal circulating enzyme concentration or activityAbnormal erythrocyte enzyme concentration or activityCataractDelayed speech and language developmentPrimary amenorrheaDelayed pubertyDecreased fertility in femalesSecondary amenorrheaOligomenorrheaJaundiceMild intellectual disabilityGlobal developmental delayMental deteriorationSpecific learning disabilityHepatic failureAbnormality of coagulationVomitingPostural tremorHepatomegalyAction tremorElevated circulating hepatic transaminase concentrationDeficit in grammarPremature ovarian insufficiencySpeech articulation difficultiesFood intoleranceDecreased circulating serum insulin-like growth factor 1 concentrationCryptorchidismDepressionAutistic behaviorAnxietyOsteoporosisSeizureAtaxiaLethargyDysarthriaGait disturbanceEncephalopathyDystoniaHypoglycemiaDiarrheaGait imbalanceIncoordinationClumsinessReduced bone mineral densityAttention deficit hyperactivity disorderSpeech apraxiaAbnormality of mental functionFeeding difficultiesBone fractureDecreased circulating vitamin D concentrationSepsisAscites
Classification & Codes
ICD-10 Code
E74.2Orphanet Code
ORPHA:79239galactose-1-phosphate uridylyltransferase deficiency
| ICD-10 | E74.2 |
| Orphanet | ORPHA:79239 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO