From the Research
Yes, Refsum disease can cause behavioral abnormalities, as the accumulation of phytanic acid in the brain can lead to neurotoxic effects and subsequent behavioral changes. This rare genetic disorder disrupts the body's ability to break down phytanic acid, leading to its accumulation in tissues and organs, including the brain. As the disease progresses, patients may experience behavioral changes such as anxiety, depression, irritability, and in some cases, psychosis or dementia-like symptoms. These behavioral manifestations typically occur alongside other neurological symptoms like peripheral neuropathy, cerebellar ataxia, and retinitis pigmentosa.
The most recent and highest quality study, 1, suggests that phytanic acid can inhibit Na+, K(+)- ATPase activity and the respiratory chain in the cerebellum, which may be involved in the pathophysiology of cerebellar abnormalities manifested as ataxia in Refsum disease. This study provides insight into the underlying mechanisms of cerebellum damage in Refsum disease, which can inform management strategies.
Management involves a strict dietary restriction of phytanic acid sources (primarily dairy products, ruminant fats, and some fish), which can help prevent further accumulation and potentially improve behavioral symptoms. In severe cases, plasmapheresis may be used to rapidly reduce phytanic acid levels, as reported in 2. Early diagnosis and dietary intervention are crucial for preventing or minimizing the neurological and behavioral complications of Refsum disease.
Key points to consider in managing Refsum disease include:
- Strict dietary restriction of phytanic acid sources
- Plasmapheresis in severe cases
- Early diagnosis and intervention to prevent or minimize complications
- Monitoring of phytanic acid levels and adjustment of management strategies as needed.