Living with Deficiency of galactokinase
A mild form of galactosemia in which the body cannot process the sugar galactose, often causing cataracts.
Understanding Deficiency of galactokinase
If babies eat foods with galactose, such as dairy products and many formulas, undigested sugars build up in the blood. Rarely, a child has pseudotumor cerebri, which looks like a brain tumor when none is present. The serious liver, kidney, and brain problems of classic galactosemia are typically not present.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as the most common:
- Cataracts (clouding of the eye lens)
- Cloudy center of the lens (nuclear cataract)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in GALK1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Galactosemia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GALK1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: galactokinase deficiency; galactokinase deficiency galactosemia; galactokinase deficiency with cataracts; galactosemia - galactokinase deficiency; galactosemia ii; galactosemia type 2
Patient organizations
- Galactosemia FoundationDeficiency of galactokinase · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of galactokinase.
Explore research for Deficiency of galactokinase
Explore actively recruiting Deficiency of galactokinase studies with HealthSpark.
Find actively recruiting studies for Deficiency of galactokinase with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Deficiency of galactokinase studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Deficiency of galactokinase
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Deficiency of galactokinase experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.