Living with Sarcosine dehydrogenase deficiency
A rare inherited metabolic condition with high sarcosine in the blood and urine that is often thought to be harmless.
Understanding Sarcosine dehydrogenase deficiency
GARD says it is most likely benign and not tied to significant symptoms. Some children found through newborn screening have stayed symptom-free. Some reports linked it to learning and nerve problems, growth failure, and other issues, but it is debated whether those were caused by sarcosinemia or were a coincidence.
Signs & symptoms
GARD doesn't list common symptoms. It reports the following as less common or debated:
- Movement and balance problems
- Poor muscle tone in infants
- Trouble sleeping
- Crossed eyes
- Blindness present at birth
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 genetic specialists.
- 3Consider genetic testing
Changes in SARDH 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
- Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
It is sometimes caused by changes in the SARDH gene and is autosomal recessive. It may also occur with glutaric acidemia type II or severe folic acid deficiency. In some people the cause is unknown.
Also known as: deficiency of the sarcosine dehydrogenase complex; demethylation defect of n-methylglycine; high plasma sarcosine levels; hypersarcosinemia; sar; sarcosine dehydrogenase complex deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sarcosine dehydrogenase deficiency.
Explore research for Sarcosine dehydrogenase deficiency
Explore actively recruiting Sarcosine dehydrogenase deficiency studies with HealthSpark.
Find actively recruiting studies for Sarcosine dehydrogenase deficiency 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 Sarcosine dehydrogenase deficiency 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 Sarcosine dehydrogenase deficiency
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 Sarcosine dehydrogenase deficiency 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.