Living with Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
A rare mitochondrial condition with thickened heart muscle, lactic acid buildup, low muscle tone, and developmental delay.
Understanding Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
It involves lactic acid buildup, low muscle tone, thickened heart muscle (hypertrophic cardiomyopathy), and global developmental delay. Other features include feeding difficulties, trouble gaining weight, seizures, optic nerve damage, and poor coordination. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Enlarged heart
- Low muscle tone (hypotonia)
- Feeding difficulties
- Damage to the optic nerve (optic atrophy)
- Slow heartbeat (bradycardia)
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 and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MTO1 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
Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, 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 Children's Cardiomyopathy Foundation 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
This condition is caused by changes in the MTO1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis; combined oxidative phosphorylation defect type 10; combined oxidative phosphorylation deficiency 10; combined oxidative phosphorylation deficiency caused by mutation in mto1; combined oxidative phosphorylation deficiency type 10; coxpd10
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · 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 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency.
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