GALACTOSE 1 PHOSPHATE URIDYL TRANSFERASE DEFICIENCY DISEASE
\ɡˈalɐktˌə͡ʊz wˈɒn fˈɒsfe͡ɪt jˈʊ͡əɹɪdˌɪl tɹansfˈɜːɹe͡ɪz dɪfˈɪʃənsi dɪzˈiːz], \ɡˈalɐktˌəʊz wˈɒn fˈɒsfeɪt jˈʊəɹɪdˌɪl tɹansfˈɜːɹeɪz dɪfˈɪʃənsi dɪzˈiːz], \ɡ_ˈa_l_ɐ_k_t_ˌəʊ_z w_ˈɒ_n f_ˈɒ_s_f_eɪ_t j_ˈʊə_ɹ_ɪ_d_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 GALACTOSE 1 PHOSPHATE URIDYL TRANSFERASE DEFICIENCY DISEASE
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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
- galactoschesia, galactoschesis
- galactoschesis
- galactoscope
- galactose
- galactose 1 p uridyltransferase
- Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
- galactose 1 phosphate uridyltransferase
- galactose dehydrogenases
- galactose oxidase
- galactose oxidoreductases
- galactosemia