UDPGLUCOSE 4 EPIMERASE DEFICIENCY DISEASE
\jˌuːdˈiː pˈiːɡlˈuːkə͡ʊs fˈɔːɹ ˈɛpɪməɹˌe͡ɪz dɪfˈɪʃənsi dɪzˈiːz], \jˌuːdˈiː pˈiːɡlˈuːkəʊs fˈɔːɹ ˈɛpɪməɹˌeɪz dɪfˈɪʃənsi dɪzˈiːz], \j_ˌuː_d_ˈiː p_ˈiː_ɡ_l_ˈuː_k_əʊ_s 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]\
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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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Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.