Infantile Refsum disease (IRD) is characterized by a mutation in the genes responsible for development of peroxisomes, structures within cells that are responsible for the breakdown of fatty acids. As a result, fatty acids accumulate and impair the normal function of multiple organ systems. It is characterized by progressive loss of vision, degenerative nerve disease, failure of muscle coordination, and dry, rough, scaly skin
HOW IS INFANTILE REFSUM DISEASE DIAGNOSED?
Paediatricians conduct a complete physical examination of the child and evaluate symptoms. They also consider the family history. For confirming diagnosis, blood and urine tests are conducted to detect the presence of phytanic acid.
HOW IS INFANTILE REFSUM DISEASE TREATED?
The main treatment of infantile refsum disease is for patients to avoid foods that contain phytanic acid such as dairy items and fish such as tuna.
DID YOU KNOW?
Infantile refsum disease is fatal but some children have been known to survive into adulthood.