REFSUMS DISEASE
\ɹɪfsˈʌmz dɪzˈiːz], \ɹɪfsˈʌmz dɪzˈiːz], \ɹ_ɪ_f_s_ˈʌ_m_z d_ɪ_z_ˈiː_z]\
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An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17 (5):391-8)
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