Living with SLC35A1-congenital disorder of glycosylation
An extremely rare genetic condition described in one person, causing repeated bleeding episodes.
Understanding SLC35A1-congenital disorder of glycosylation
In the single reported case, the person had repeated bleeding episodes, including severe bleeding in the lungs. Platelets, the cells that help blood clot, were low and unusually large. Infections and breathing problems were also reported. Signs start in the newborn and infant period.
Signs & symptoms
GARD lists these among the most common features:
- Repeated bleeding, including in the lungs
- Low platelet count
- Giant platelets
- Breathing difficulties
- Pneumonia
- Skin infection (cellulitis)
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, genetic specialists, kidney specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC35A1 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 and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- 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 SLC35A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: carbohydrate deficient glycoprotein syndrome type iif; cdg iif; cdg syndrome type iif; cdg-iif; cdg2f; cmp-sialic acid transporter deficiency
Patient organizations
- CDG CARESLC35A1-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · 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 SLC35A1-congenital disorder of glycosylation.
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