Living with Mitochondrial DNA depletion syndrome 13
A mitochondrial condition that starts in infancy with feeding difficulty, slow growth, low muscle tone, and developmental delay.
Understanding Mitochondrial DNA depletion syndrome 13
It is marked by lactic acid buildup and slow growth from birth or early life, feeding difficulty, low muscle tone, and developmental delay. Other brain-related signs can include seizures, movement disorders, poor coordination, and stroke-like episodes. The heart, liver, eyes, hearing, and bone marrow can also be affected. GARD says it has been reported in 50 people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in reaching developmental milestones
- Feeding difficulties and slow growth
- Smaller-than-average head size (microcephaly)
- Enlarged liver
- Clouding of the eye lens (cataract)
- Brain disease (encephalopathy)
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in FBXL4 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); Digestive system specialists (gastroenterologists); 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 United Mitochondrial Disease 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 FBXL4 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: f-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form; fbxl4 (f-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy; fbxl4 mitochondrial dna depletion syndrome; fbxl4-related early onset mitochondrial encephalopathy; fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome; mitochondrial dna depletion syndrome 13 (encephalomyopathic type)
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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