Infantile Refsum disease

Infantile Refsum disease (IRD) is a rare inherited metabolic disorder that belongs to a group of conditions called peroxisome biogenesis disorders within the Zellweger spectrum. Peroxisomes are tiny structures inside cells that help break down certain fats and toxins. In IRD, these peroxisomes do not form or function properly, which leads to a buildup of harmful substances like phytanic acid, very long-chain fatty acids, and other compounds in the body. IRD is considered the mildest form of the Zellweger spectrum disorders, but it still causes significant health problems. Children with IRD typically show symptoms in infancy or early childhood. Common problems include vision loss due to a condition called retinitis pigmentosa, hearing loss, developmental delays, low muscle tone (hypotonia), liver problems, and mild facial differences. Some children may also experience difficulty with balance and coordination. Growth and intellectual development are often affected, though the severity varies from child to child. There is currently no cure for Infantile Refsum disease. Treatment focuses on managing symptoms and slowing disease progression. This may include a diet low in phytanic acid (found in dairy fat, beef, lamb, and certain fish), hearing aids, vision support, physical therapy, and regular monitoring of liver function. With supportive care, many individuals with IRD survive into adulthood, though they typically need ongoing medical support throughout their lives. Early diagnosis and intervention can help improve quality of life.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific PEX gene mutation does my child have, and what does that mean for the expected severity of the disease?,How strictly do we need to follow the phytanic acid-restricted diet, and can we get help from a specialized dietitian?,How often should my child have vision and hearing tests, and what interventions are available as these change?,Is my child a candidate for cholic acid (Cholbam) therapy to support liver function?,What developmental therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or emerging treatments we should know about?,What are the warning signs that would require emergency medical attention?

Common questions about Infantile Refsum disease

Related conditions

Other rare diseases commonly researched alongside Infantile Refsum disease.

• Neonatal adrenoleukodystrophy→
• Rhizomelic chondrodysplasia punctata→
• X-linked adrenoleukodystrophy→
• Zellweger syndrome→