Living with Fumarase deficiency
A condition that mainly affects the nervous system, especially the brain, causing small head size, seizures, and severe developmental delay in infants.
Understanding Fumarase deficiency
Infants may have a small head size (microcephaly), differences in brain structure, severe developmental delay, low muscle tone, and poor weight gain. They may also have seizures. Some have distinctive facial features, an enlarged liver and spleen, or changes in red or white blood cell counts. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe developmental delay
- Seizures
- Low muscle tone (hypotonia)
- Poor weight gain and feeding trouble
- Small head or brain shrinkage
- Wide-set eyes and prominent forehead
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in FH 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
Epilepsy Foundation, 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 Epilepsy 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
Changes in the FH gene cause it. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: fmrd; fumarate hydratase deficiency; fumaric aciduria
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Fumarase deficiency.
Explore research for Fumarase deficiency
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- Recruiting studies from ClinicalTrials.gov
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