HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY DISEASE
\hˌa͡ɪpə͡ʊzˈanθa͡ɪn fˈɒsfɔːɹˌɪbəsˌɪl tɹansfˈɜːɹe͡ɪz dɪfˈɪʃənsi dɪzˈiːz], \hˌaɪpəʊzˈanθaɪn fˈɒsfɔːɹˌɪbəsˌɪl tɹansfˈɜːɹeɪz dɪfˈɪʃənsi dɪzˈiːz], \h_ˌaɪ_p_əʊ_z_ˈa_n_θ_aɪ_n f_ˈɒ_s_f_ɔː_ɹ_ˌɪ_b_ə_s_ˌɪ_l t_ɹ_a_n_s_f_ˈɜː_ɹ_eɪ_z d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY DISEASE
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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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Nearby Words
- hypovolemics
- hypoxanthin
- hypoxanthine
- hypoxanthine dehydrogenase
- hypoxanthine oxidase
- Hypoxanthine Phosphoribosyl Transferase Deficiency Disease
- hypoxanthine phosphoribosyl transferase deficiency diseases
- hypoxanthine xanthine oxidase
- hypoxanthines
- hypoxemia
- hypoxemias