PHYTANIC ACID STORAGE DISEASE
\fa͡ɪtˈanɪk ˈasɪd stˈɔːɹɪd͡ʒ dɪzˈiːz], \faɪtˈanɪk ˈasɪd stˈɔːɹɪdʒ dɪzˈiːz], \f_aɪ_t_ˈa_n_ɪ_k ˈa_s_ɪ_d s_t_ˈɔː_ɹ_ɪ_dʒ 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)
By DataStellar Co., Ltd
Nearby Words
- physostomous
- phyt-
- phytagglutinins
- phytalbumose
- phytanic acid
- Phytanic Acid Storage Disease
- phytase
- phytate
- phyte
- phytelephas
- phytelephas macrocarpa