Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Reduced erythrocyte galactokinase activity
Always present (100%)HP:6000723
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Increased level of galactitol in plasma
Very frequent (80-99%)HP:0410061
Increased level of galactitol in urine
Very frequent (80-99%)HP:0410062
Cataract
Frequent (30-79%)HP:0000518
Nuclear cataract
Frequent (30-79%)HP:0100018
Apraxia of speech
Occasional (5-29%)HP:0011098
Birth weight less than 10th percentile
Occasional (5-29%)HP:0001518
Delayed motor milestones
Occasional (5-29%)HP:0001270
Enlarged liver
Occasional (5-29%)HP:0002240
Hepatosplenomegaly
Occasional (5-29%)HP:0001433
Hyperinsulinemia
Occasional (5-29%)HP:0000842
Intracranial hypertension
Occasional (5-29%)HP:0002516
Low intelligence
Occasional (5-29%)HP:0001249
Premature menopause
Occasional (5-29%)HP:0008209
Primary hypogonadism
Occasional (5-29%)HP:0000815
Complement deficiency
Very rare (1-4%)HP:0004431
Decreased size of cranium
Very rare (1-4%)HP:0000252
Elevated total cholesterol
Very rare (1-4%)HP:0003124
Epilepsy
Very rare (1-4%)HP:0001250
Feeding difficulties
Very rare (1-4%)HP:0011968
Low blood sugar
Very rare (1-4%)HP:0001943
Neonatal asphyxia
Very rare (1-4%)HP:0012768
Poor weight gain
Very rare (1-4%)HP:0001508
Premature birth
Very rare (1-4%)HP:0001622
Psychomotor deterioration
Very rare (1-4%)HP:0002361
Sensorineural deafness
Very rare (1-4%)HP:0000407
Galactosuria
HP:0012023
Hypergalactosemia
HP:0012024
Prolonged neonatal jaundice
HP:0006579
Quick Facts
- SNOMED CT
- 124302001
- UMLS CUI
- C0268155
- Fully Specified Name
- Deficiency of galactokinase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.