REFSUMS SYNDROME
\ɹɪfsˈʌmz sˈɪndɹə͡ʊm], \ɹɪfsˈʌmz sˈɪndɹəʊm], \ɹ_ɪ_f_s_ˈʌ_m_z s_ˈɪ_n_d_ɹ_əʊ_m]\
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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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