Infantile Refsum Disease (IRD) is a rare genetic disorder that affects the metabolism of fatty acids, leading to the accumulation of harmful substances in various tissues and organs of the body. It is classified as a peroxisomal disorder, as it is caused by a defect in peroxisome biogenesis or function.
Infantile Refsum Disease typically appears during infancy or early childhood and is characterized by a range of symptoms. These may include growth and developmental delays, hearing and vision impairments, muscle weakness and stiffness, breathing difficulties, feeding problems, and neurological abnormalities, such as seizures, ataxia, and intellectual disability. Affected individuals may also exhibit distinct facial features, such as a flattened nasal bridge, low-set ears, and narrow eye openings.
The underlying cause of Infantile Refsum Disease is mutations in genes responsible for peroxisome biogenesis or function, specifically the PEX1, PEX5, PEX10, PEX12, and PEX26 genes. These mutations disrupt the normal functioning of peroxisomes, which are required for the breakdown of long-chain fatty acids and phytanic acid, leading to their accumulation in tissues and organs.
Treatment for Infantile Refsum Disease is primarily supportive, focusing on managing symptoms and improving the patient's quality of life. This may involve physical, occupational, and speech therapy to address developmental delays, dietary modifications to restrict intake of phytanic acid, and medication to help control seizures and other associated medical conditions.
It is important for individuals with Infantile Refsum Disease to receive comprehensive medical care, including regular monitoring of their condition, early intervention for developmental delays, and management of related health issues.
