HEREDOPATHIA ATACTICA POLYNEURITIFORMIS
\hɪɹˌɛdəpˈaθi͡əɹ atˈaktɪkə pˌɒlɪnjˈuːɹɪtˌɪfɔːmˌɪs], \hɪɹˌɛdəpˈaθiəɹ atˈaktɪkə pˌɒlɪnjˈuːɹɪtˌɪfɔːmˌɪs], \h_ɪ_ɹ_ˌɛ_d_ə_p_ˈa_θ_iə_ɹ a_t_ˈa_k_t_ɪ_k_ə p_ˌɒ_l_ɪ_n_j_ˈuː_ɹ_ɪ_t_ˌɪ_f_ɔː_m_ˌɪ_s]\
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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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Word of the day
Health Personnel Attitudes
- Attitudes of personnel toward their patients, other professionals, the medical care system, etc.
Nearby Words
- heredo-
- heredoataxia
- heredodegenerative disorders, nervous system
- heredolues
- heredoluetic
- Heredopathia Atactica Polyneuritiformis
- heredosyphilis
- heredosyphilitic
- heredosyphilology
- heredotuberculosis
- herefare