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Refsum disease
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Transcript of Refsum disease
REFUSUMS DISEASE
By ROBIN MATHEW
Outline• Definition• Genetic makeup• Clinical components• Cause of disorder• Symptoms• Treatment• Prognosis
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
GENETIC makeup• Autosomal recessive• Refsum disease 1 -Phytanoyl-CoA hydroxylase• Refsum disease 2• Peroxin 7• Europeans• Gene:-PHYH
Clinical components• Pertinent physical findings include cardiac, and skin
defects.• Neurologic/ophthalmologic signs are as follows:– Nystagmus– Retinitis Pigmentosa– Anosmia– Sensorineural deafness
Phytanoyl-CoA hydroxylase Gene
• Locus: 10p13
Causes of disorder• Abnormal buildup of fatty acid called a
phytanic acid
• Normally broken down by Peroxisomes
Symptoms• Night blindness• Retinitis Pigmentosa• Deafness• Dry, scaly skin • Shortened fingers or toes
DIAGNOSIS• Chronic and intermittent polyneuritis• Relapsing infectious polyneuritis • mitochondrial myopathies• Acute intermittent porphyria• Recurrent exposure to toxins• Various hereditary motor neuropathies
TREATMENTDIET• Less amount of phytanic acid in diet• Slow progression of eye/hearing changes
Plasmapheresis:-plasma exchange
Prognosis
Refsum disease is treatable although incurable
Even if improved by diet, although changes in vision, hearing, and sense of smell may be irreversible
Phytanic acid is found in foods like dairy products and beef