Living with SLC39A8-CDG
A rare genetic metabolic condition starting in infancy that affects development, muscle tone and the brain.
Understanding SLC39A8-CDG
This makes it harder for proteins to do their jobs. Symptoms include delayed development, severe intellectual disability and low muscle tone. People may have short stature, seizures, crossed eyes, repeated infections and thin bones. Lab tests may show low zinc and manganese. Parts of the brain can shrink over time. It starts in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound developmental delay
- Severely low muscle tone
- Seizures
- Crossed eyes (strabismus)
- Short stature
- Poor head control
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC39A8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE
- 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 CDG CARE 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
GARD lists changes in the SLC39A8 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: carbohydrate deficient glycoprotein syndrome type iin; cdg iin; cdg syndrome type iin; cdg-iin; cdg2n; congenital disorder of glycosylation type 2n
Patient organizations
- CDG CARESLC39A8-CDG · United States
- CDG & Allies - PPAINSLC39A8-CDG
You are more than your diagnosis
Perspectives from people navigating life with SLC39A8-CDG.
Explore research for SLC39A8-CDG
Explore actively recruiting SLC39A8-CDG studies with HealthSpark.
Find actively recruiting studies for SLC39A8-CDG 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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