Just diagnosed with Methylmalonic aciduria and homocystinuria?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Methylmalonic aciduria and homocystinuria, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive Methylmalonic aciduria and homocystinuria hub →Overview
Methylmalonic aciduria and homocystinuria is a rare condition. Also known as Combined defect in adenosylcobalamin and methylcobalamin synthesis, Methylmalonic aciduria with homocystinuria. Tomeko brings together the specialists, research, clinical trials, treatments and community for Methylmalonic aciduria and homocystinuria so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:26 · OMIM 277380, 277400, 277410 · ICD-10 E71.1 · GARD 0003579
Find care for Methylmalonic aciduria and homocystinuria
Authoritative references for Methylmalonic aciduria and homocystinuria
Research & market landscape for Methylmalonic aciduria and homocystinuria
Following Methylmalonic aciduria and homocystinuria for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Methylmalonic aciduria and homocystinuria — the real-world landscape behind the condition, in one place.
- Latest Methylmalonic aciduria and homocystinuria research on PubMed ↗
- Recruiting Methylmalonic aciduria and homocystinuria trials on ClinicalTrials.gov ↗
- Explore the Methylmalonic aciduria and homocystinuria research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Methylmalonic aciduria and homocystinuria and every rare condition. See how Tomeko works with industry →
Common questions
What is Methylmalonic aciduria and homocystinuria?
Methylmalonic aciduria and homocystinuria is a rare condition. Also known as Combined defect in adenosylcobalamin and methylcobalamin synthesis, Methylmalonic aciduria with homocystinuria. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Methylmalonic aciduria and homocystinuria together in one place.
What are the symptoms of Methylmalonic aciduria and homocystinuria?
Symptoms of Methylmalonic aciduria and homocystinuria vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Methylmalonic aciduria and homocystinuria.
How is Methylmalonic aciduria and homocystinuria treated?
Treatment for Methylmalonic aciduria and homocystinuria depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Methylmalonic aciduria and homocystinuria, and review current options with them.
What causes Methylmalonic aciduria and homocystinuria — is it genetic?
The cause and inheritance of Methylmalonic aciduria and homocystinuria are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Methylmalonic aciduria and homocystinuria can explain what it means for you and your family.
I was just diagnosed with Methylmalonic aciduria and homocystinuria — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees Methylmalonic aciduria and homocystinuria, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for Methylmalonic aciduria and homocystinuria?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Methylmalonic aciduria and homocystinuria, filtered to your area.
Are there clinical trials for Methylmalonic aciduria and homocystinuria?
Tomeko shows live, recruiting studies for Methylmalonic aciduria and homocystinuria from ClinicalTrials.gov on the hub.
Related conditions
Other conditions on Tomeko you may be looking for:
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- 3 beta-Hydroxysteroid dehydrogenase deficiency
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- 3-Hydroxyisobutyric aciduria
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-methylglutaconic aciduria type 1
- 3-Methylglutaconic aciduria type 2
- 3-Methylglutaconic aciduria type 3