UDP GALACTOSE 4 EPIMERASE DEFICIENCY DISEASES
\jˌuːdˌiːpˈiː ɡˈalɐktˌə͡ʊz fˈɔːɹ ˈɛpɪməɹˌe͡ɪz dɪfˈɪʃənsi dɪzˈiːzɪz], \jˌuːdˌiːpˈiː ɡˈalɐktˌəʊz fˈɔːɹ ˈɛpɪməɹˌeɪz dɪfˈɪʃənsi dɪzˈiːzɪz], \j_ˌuː_d_ˌiː_p_ˈiː ɡ_ˈa_l_ɐ_k_t_ˌəʊ_z f_ˈɔː_ɹ ˈɛ_p_ɪ_m_ə_ɹ_ˌeɪ_z d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z_ɪ_z]\
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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
- udp acetylgalactosamine
- udp acetylglucosamine
- udp acetylmuramic acid
- udp galactose
- udp galactose 4 epimerase deficiency disease
- UDP Galactose 4 Epimerase Deficiency Diseases
- udp galactose acetylglucosamine galactosyltransferase
- udp galactose epimerase
- udp galactose n acetylglucosamine galactosyltransferase
- udp galactose pyrophosphorylase
- udp glucose