Refsum Disorder

Dr. Khawaja Ali Zakir

Introduction:
• Refsum's disease is a recessive genetic disorder that causes a build-up
of a fatty acid called phytanic acid in the body.
• Phytanic acid is found in certain foods, including dairy products, beef,
lamb, and some seafood.
• People with Refsum's disease do not have enough of an enzyme
called phytanoyl-CoA hydroxylase, which breaks down phytanic acid.
• As a result, phytanic acid builds up in the body and can damage the
nerves, eyes, and other organs.
• The symptoms of Refsum's disease can vary from person to person,
but they usually start in childhood or early adulthood
Infantile Refsum

• Infantile Refsum disease is caused by a

defect in any one of the 12-PEX genes,
which are involved in the formation and
function of peroxisomes.
• Peroxisomes are small organelles that
play a role in the breakdown of fats,
proteins, and toxins.
Sign and Symptoms
Impaired eyesight (Retinitis problems (Ataxia)
Pigmentosa) Apparent later in life
Loss of night vision in Dry, scaly skin (Ichthyosis)
childhood <5 disrupted
peripheral vision blindness Apparent later in life
Most apparent and serious Heartbeat abnormalities
symptom (Cardiac arrhythmias)
Deafness Shortened fingers or toes
Apparent later in life Disease usually apparent
Loss of smell (Anosmia) in childhood, although
sometimes symptoms may
Always apparent in patient not develop until 40s or
Balance or coordination 50s
 • Reduce amount of phytanic acid
entering body.
• Will clear up walking, nerve, and
skin problem.
• Slow progression of eye/hearing
change.
Treatment: • Refsum’s disease is treatable
although incurable.
• Diet can improve problem, although
changes in vision, hearing and sense
of smell may be irreversible.
• Normal Level: 0.2mg/dl
• Elevated Level: 10-15mg/dl