refsum disease its a genetical disorder which is autosomal recessive phytanoyl-CoA-hydroxylase is the enzyme location of this enzyme is chromosome 10p13

1. REFUSUMS DISEASE
By
ROBIN MATHEW

2. Outline
• Definition
• Genetic makeup
• Clinical components
• Cause of disorder
• Symptoms
• Treatment
• Prognosis

3. REFSUMS DISEASE
• Disorder associated with impaired oxidation of
phytanic acid and elevated phytanic levels in CNS
• Norwegian neurologist Sigvald Bernhard
Refsum (1907–1991)
• 1945
• Level of phytanic acid in blood
– Normal - ≤ 0.2mg/dl
– Refsum disease - 10-50mg/dl

4. GENETIC makeup
• Autosomal recessive
• Refsum disease 1
-Phytanoyl-CoA hydroxylase
• Refsum disease 2
• Peroxin 7
• Europeans
• Gene:-PHYH

5. Clinical components
• Pertinent physical findings include cardiac, and skin
defects.
• Neurologic/ophthalmologic signs are as follows:
– Nystagmus
– Retinitis Pigmentosa
– Anosmia
– Sensorineural deafness

6. Phytanoyl-CoA hydroxylase Gene
• Locus: 10p13

7. Causes of disorder
• Abnormal buildup of fatty acid called a
phytanic acid
• Normally broken down by Peroxisomes

8. Symptoms
• Night blindness
• Retinitis Pigmentosa
• Deafness
• Dry, scaly skin
• Shortened fingers or toes

9. DIAGNOSIS
• Chronic and intermittent polyneuritis
• Relapsing infectious polyneuritis
• mitochondrial myopathies
• Acute intermittent porphyria
• Recurrent exposure to toxins
• Various hereditary motor neuropathies

10. TREATMENT
DIET
• Less amount of phytanic acid in diet
• Slow progression of eye/hearing changes
Plasmapheresis:-plasma exchange

11. Prognosis
Refsum disease is treatable although incurable
 Even if improved by diet, although changes in
vision, hearing, and sense of smell may be
irreversible

12. Phytanic acid is found in foods like dairy products and
beef