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