UTP HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
\jˌuːtˌiːpˈiː hˈɛksə͡ʊz wˈɒn fˈɒsfe͡ɪt jˈʊ͡əɹɪdˌɪlɪltɹɐnsfˌɜːɹe͡ɪz dɪfˈɪʃənsi], \jˌuːtˌiːpˈiː hˈɛksəʊz wˈɒn fˈɒsfeɪt jˈʊəɹɪdˌɪlɪltɹɐnsfˌɜːɹeɪz dɪfˈɪʃənsi], \j_ˌuː_t_ˌiː_p_ˈiː 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 UTP HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
Nearby Words
- utopianist
- utopical
- utopist
- utp glucose 1 phosphate uridylyltransferase
- utp hexose 1 phosphate uridylyltransferase
- UTP Hexose 1 Phosphate Uridylyltransferase Deficiency
- utraquism
- utraquist
- utraquists
- utrecht
- utrecht, treaty of