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INFANTILE REFSUM DISEASE
Infantile Refsum disease is an inborn error in the way phytanic acid is processed or metabolised in the body. Children with this disorder would display poor muscle coordination, mental disabilities, abnormal facial features and hearing loss
HOW IS INFANTILE REFSUM DISEASE DIAGNOSED?
Diagnosis of the same is done through molecular testing and you may have to undergo some scans and MRI.
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 becomes more apparent during first year of life.