UDPGLUCOSE HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
\jˌuːdˈiː pˈiːɡlˈuːkə͡ʊs hˈɛksə͡ʊz wˈɒn fˈɒsfe͡ɪt jˈʊ͡əɹɪdˌɪlɪltɹɐnsfˌɜːɹe͡ɪz dɪfˈɪʃənsi], \jˌuːdˈiː pˈiːɡlˈuːkəʊs hˈɛksəʊz wˈɒn fˈɒsfeɪt jˈʊəɹɪdˌɪlɪltɹɐnsfˌɜːɹeɪz dɪfˈɪʃənsi], \j_ˌuː_d_ˈiː p_ˈiː_ɡ_l_ˈuː_k_əʊ_s h_ˈɛ_k_s_əʊ_z w_ˈɒ_n f_ˈɒ_s_f_eɪ_t j_ˈʊə_ɹ_ɪ_d_ˌɪ_l_ɪ_l_t_ɹ_ɐ_n_s_f_ˌɜː_ɹ_eɪ_z d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
Definitions of UDPGLUCOSE HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
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A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
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Nearby Words
- udpgal
- udpgalactose 4 epimerase
- udpglucose 4 epimerase
- udpglucose 4 epimerase deficiency disease
- udpglucose hexose 1 phosphate uridylyltransferase
- UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency
- udpgnac
- udranszky's test
- uekewallists
- uel
- ufa