Just diagnosed with HSD10 mitochondrial disease?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees HSD10 mitochondrial disease, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive HSD10 mitochondrial disease hub →Overview
HSD10 mitochondrial disease is a rare condition. Also known as 2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, HSD10 deficiency, MHBD deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for HSD10 mitochondrial disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:391417 · OMIM 300438 · ICD-10 E72.8 · GARD 0010716
Find care for HSD10 mitochondrial disease
Authoritative references for HSD10 mitochondrial disease
Research & market landscape for HSD10 mitochondrial disease
Following HSD10 mitochondrial disease for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for HSD10 mitochondrial disease — the real-world landscape behind the condition, in one place.
- Latest HSD10 mitochondrial disease research on PubMed ↗
- Recruiting HSD10 mitochondrial disease trials on ClinicalTrials.gov ↗
- Explore the HSD10 mitochondrial disease 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 HSD10 mitochondrial disease and every rare condition. See how Tomeko works with industry →
Common questions
What is HSD10 mitochondrial disease?
HSD10 mitochondrial disease is a rare condition. Also known as 2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, HSD10 deficiency, MHBD deficiency. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for HSD10 mitochondrial disease together in one place.
What are the symptoms of HSD10 mitochondrial disease?
Symptoms of HSD10 mitochondrial disease 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 HSD10 mitochondrial disease.
How is HSD10 mitochondrial disease treated?
Treatment for HSD10 mitochondrial disease depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see HSD10 mitochondrial disease, and review current options with them.
What causes HSD10 mitochondrial disease — is it genetic?
The cause and inheritance of HSD10 mitochondrial disease are described in the authoritative references linked on this page. A genetics or specialist clinician who treats HSD10 mitochondrial disease can explain what it means for you and your family.
I was just diagnosed with HSD10 mitochondrial disease — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees HSD10 mitochondrial disease, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for HSD10 mitochondrial disease?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat HSD10 mitochondrial disease, filtered to your area.
Are there clinical trials for HSD10 mitochondrial disease?
Tomeko shows live, recruiting studies for HSD10 mitochondrial disease from ClinicalTrials.gov on the hub.
Related conditions
Other conditions on Tomeko you may be looking for:
- 2-aminoadipic 2-oxoadipic aciduria
- 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