galactokinase deficiency
ORPHA: 79237
Overview
galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase
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 galactokinase deficiency, sourced from HPO and Orphanet clinical annotations.
HypergalactosemiaAbnormal circulating enzyme concentration or activityIncreased level of galactitol in plasmaIncreased level of galactitol in urineCataractNuclear cataractHypergonadotropic hypogonadismHyperinsulinemiaIntellectual disabilityMotor delayHepatosplenomegalySmall for gestational ageHepatomegalyPremature ovarian insufficiencySpeech apraxiaMicrocephalySensorineural hearing impairmentSeizureFailure to thrivePremature birthHypoglycemiaPsychomotor deteriorationHypercholesterolemiaReduced circulating complement concentrationFeeding difficultiesNeonatal asphyxia
Classification & Codes
Orphanet Code
ORPHA:79237galactokinase deficiency
| Orphanet | ORPHA:79237 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO