Classic galactosemia definition

Classic galactosemia means a congenital disorder characterized by abnormal galactose metabolism due to defective galactose- 1-phosphate uridyltranferase activity.
Sample 1Sample 2Sample 3
Classic galactosemia means a congenital disorder char- acterized by abnormal galactose metabolism due to defective galactose-1-phosphate uridyltranferase activity.
Sample 1Sample 2
Classic galactosemia means a congenital disorder characterized by abnormal galactose metabolism due to defec- tive galactose-1-phosphate uridyltranferase activity.
Sample 1Sample 2

Examples of Classic galactosemia in a sentence

  • Classic galactosemia is a rare inherited disorder of galactose metabolism caused by severe deficiency of the second step in the main pathway for galactose catalyzed by galactose-1- phosphate uridylyltransferase (GALT) (Coelho et al.

  • Classic galactosemia was diagnosed by GALT enzyme activity assay and/or GALT-gene mutational analysis, and all patients ad- hered to a galactose restricted diet.

  • Classic galactosemia occurs across many ethnicities, including ones not represented at all in our cohort.

  • Shone, NJ Department of Health, Ewing, NJ Background: Classic galactosemia is an autosomal recessive disorder characterized by elevated galactose in the blood due to the absence or dysfunction of an enzyme responsible for the transformation of galactose to glucose, galactose-1-phosphate uridyltransferase (GALT).

  • Approximately 33% to 50% enter puberty spontaneously, 14% to 20% have spontaneous menarche, and 5% have a spontaneous pregnancy.• Classic galactosemia is a rare inborn error of galactose metabolism that can result in neurodevelopmental impairment and, in 80% of women and girls with the condition, primary ovarian insufficiency.

  • Classic galactosemia is due to a galactose 1-phosphate uridyl transferase deficiency.

  • R01059904 (to JLFK).293031 Ethics approval: This study was submitted to the Emory University Institutional Review Board3233 (IRB) but was deemed not to require approval.3435363738394041424344454647484950515253545556574 INTRODUCTION567 Classic galactosemia (OMIM 230400) is an autosomal recessive disorder that results from a8109 profound defect in the enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12),1112 leading to an impaired ability to metabolize galactose.

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