galactose epimerase deficiency
Findings
No curated finding names galactose epimerase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.
Definition from the Mondo Disease Ontology (MONDO:0009257), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- HypergalactosemiaHPOHP:0012024
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Feeding difficulties
Show the remaining 5
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- Decreased beta-galactosidase activityHPOHP:0008166
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GALEHGNC:4116
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: galactose epimerase deficiency
- Also called
- epimerase deficiency galactosemiagalactosemia type 3GALE deficiencyGALE-DUDP-galactose-4-epimerase deficiencyuridine diphosphate galactose-4-epimerase deficiency