COMPLETE HGPRT DEFICIENCY DISEASE
\kəmplˈiːt ˌe͡ɪt͡ʃd͡ʒˌiːpˈiːˌɑːtˈiː dɪfˈɪʃənsi dɪzˈiːz], \kəmplˈiːt ˌeɪtʃdʒˌiːpˈiːˌɑːtˈiː dɪfˈɪʃənsi dɪzˈiːz], \k_ə_m_p_l_ˈiː_t ˌeɪ_tʃ_dʒ_ˌiː_p_ˈiː__ˌɑː_t_ˈiː d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
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