Living with HSD10 mitochondrial disease
A genetic condition affecting the nervous system, vision, and heart, usually more severe in males.
Understanding HSD10 mitochondrial disease
It is typically more severe in males. In the infantile type, early development seems normal, then skills are lost, often between ages 1 and 2. In the neonatal type, severe neurological problems start at birth. Males often have low muscle tone, seizures, vision loss, and weakened heart muscle (cardiomyopathy). Females may have developmental delay or learning problems, but do not lose skills.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Loss of learned skills (regression)
- Gradual vision loss
- Seizures
- Learning disability
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 and genetic specialists.
- 3Consider genetic testing
Changes in HSD17B10 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
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 Organic Acidemia Association 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
Changes in the HSD17B10 gene cause this condition. GARD lists X-linked and mitochondrial inheritance.
Also known as: 17-beta-hydroxysteroid dehydrogenase 10 deficiency; 17-beta-hydroxysteroid dehydrogenase x deficiency; 2-methyl-3-hydroxybutyric aciduria; 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency; 2m3hba; 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Patient organizations
- Organic Acidemia AssociationHSD10 mitochondrial disease · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with HSD10 mitochondrial disease.
Explore research for HSD10 mitochondrial disease
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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