Infantile Refsum Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Infantile Refsum Disease?
A primary care doctor, such as a pediatrician, usually coordinates care. Specialists may include a neurologist, a geneticist, an eye doctor, a hearing specialist, and a liver specialist. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Infantile Refsum disease is a rare condition that a baby is born with. It belongs to a group of disorders called peroxisome biogenesis disorders. Peroxisomes are tiny parts inside cells that break down harmful substances. When they do not work, toxic materials build up and can affect the brain, eyes, ears, liver, and other organs. It is the mildest form of the Zellweger spectrum disorders.
Symptoms
Signs often appear in infancy, though they can be mild at first. Many babies have weak muscle tone, trouble feeding, or slow growth. Vision and hearing problems are common and may get worse over time. Other signs can include a large soft spot on the skull, unusual facial features, liver problems, delays in learning to sit, crawl, or talk, and seizures. Each child is different, and symptoms vary a lot.
Causes and who gets it
The disease is caused by mutations in genes such as PEX1 and other PEX genes, which give the body instructions for building peroxisomes. It is inherited, meaning a child must receive a changed gene from both parents. Parents are usually just carriers with no symptoms. It affects boys and girls equally and is extremely rare.
How doctors diagnose it
Doctors start with a physical exam and a history of symptoms. Blood and urine tests can show that certain substances are building up because peroxisomes are not working. Genetic testing can confirm the diagnosis. Other tests may check vision, hearing, liver function, and brain activity.
Treatment
There is no cure, but treatment can help manage symptoms and improve quality of life. Care may include hearing aids, vision support, feeding help, and medicines to control seizures. Physical, occupational, and speech therapy can support development. Doctors also monitor the liver and other organs and may prescribe supplements such as vitamins and docosahexaenoic acid (DHA).
When to see a doctor
Talk to a doctor if a baby has floppy muscles, trouble feeding, poor growth, or delays in sitting, crawling, or talking. Vision or hearing problems, seizures, or a bulging soft spot also need prompt attention. Early evaluation can lead to earlier diagnosis and better support.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually costs more and often works alongside insurance. Either one can spend extra time coordinating complex care, manage routine visits and follow-up, and refer the family to specialists when needed. Longer appointments also make it easier to ask questions and plan next steps.
Common questions
Is infantile Refsum disease the same as adult Refsum disease?
No. Adult Refsum disease is a different genetic condition that usually appears later in life, with different causes and treatments.
Can infantile Refsum disease be prevented?
There is no known way to prevent it. Families with a history can talk with a genetic counselor about testing before or during pregnancy.
How long do children with this condition live?
Life expectancy varies widely and depends on symptom severity. Some children have serious complications, while others live into adulthood.
Is there a registry or support group for families?
Yes. Organizations focused on rare genetic conditions and Zellweger spectrum disorders offer information and family support.
Sources
- NIH Genetic and Rare Diseases Information Center - Peroxisome biogenesis disorder
- MedlinePlus - Zellweger spectrum disorder: MedlinePlus Genetics
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
