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 HSD10 mitochondrial disease hub →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
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.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat HSD10 mitochondrial disease, filtered to your area.
Tomeko shows live, recruiting studies for HSD10 mitochondrial disease from ClinicalTrials.gov on the hub.