classic galactosemia
Findings
No curated finding names classic galactosemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Definition from the Mondo Disease Ontology (MONDO:0009258), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
64 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating galactitol concentrationHPOHP:0410061
- 20 of 20 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 52
- HypergalactosemiaHPOHP:0012024
- 2 of 3 reported patients
- Abnormality of coagulationHPOHP:0001928
- Frequent (30% to 79% of cases)
- Action tremorHPOHP:0002345
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- 1 of 2 reported patients · Infantile onset
- Frequent (30% to 79% of cases)
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Frequent (30% to 79% of cases)
- Decreased fertility in femalesHPOHP:0000868
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.
- GALTHGNC:4135
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: classic galactosemia
- Also called
- galactose-1-phosphate uridyltransferase deficiencygalactosemia type 1GALT deficiency