REFSUM THIEBAUT SYNDROMES
\ɹɪfsˈʌm θˈiːba͡ʊt sˈɪndɹə͡ʊmz], \ɹɪfsˈʌm θˈiːbaʊt sˈɪndɹəʊmz], \ɹ_ɪ_f_s_ˈʌ_m θ_ˈiː_b_aʊ_t s_ˈɪ_n_d_ɹ_əʊ_m_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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Nearby Words
- refringent
- refringent molecules
- refsum disease
- refsum syndrome
- refsum thiebaut syndrome
- Refsum Thiebaut Syndromes
- refsums disease
- refsums syndrome
- reft
- refuel
- refueling