GALACTOKINASE DEFICIENCY DISEASE
\ɡˈalɐktˌɒkɪnˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡˈalɐktˌɒkɪnˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡ_ˈa_l_ɐ_k_t_ˌɒ_k_ɪ_n_ˌeɪ_s 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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Nearby Words
- galactogenous
- galactogogue, galac-tagogue
- galactogogues
- galactohaemia
- galactokinase
- Galactokinase Deficiency Disease
- galactokinase deficiency diseases
- galactometastasis
- galactometer
- galactoncus
- galactop'athy