Which of the following enzymes is deficient in Criggler Najer syndrome?
Ans: a (UDP-Glucronyl trans....) Ref: Vasudevan, 4th ed, 256; 5th ed,p. 268; Harper, 23th ed,p. 371In Crigler Najar syndrome there is severe deficiency of UDP-Glucronyl transferase-1.UBG: UrobilinogenUB: UrobilinSB: StercobilinTests for bile pigments:Bilirubin: Fouchets, gmelins, van den berg.Bilinogens: (UBG) Ehrlich test.Bilins: (UB + SB) Schlesingers testFew points about jaundice in children:Physiological jaundice:Occurs 24 hrs after birth. Two phases:Phase I - lasts 3-5 days. Bilirubin level will not exceed 15 mg / dl., Phase II - lasts for 2 weeks, upto 1 month in pre term infantsMost important point in physiological jaundice:Total S. bilirubin level < 15 mg / dl.Rise not more than 0.5 mg/ hr or 5 mg / dl per day.Onset after 24 hrs.Direct S. bilirubin < 2 mg / dl.Breast feeding jaundice:Rise in serum bilirubin for the first few days only.Breast milk jaundice:Due to inhibition of conjugation by substances like FFAand pregnanediol.Rise of bilirubin occurs by 7th day.Reaches maximum concentration of 10-30 mg /dl by 2-3 weeks.Temporary interruption improves condition.
UDP glucoronyl transferase 1
UDP glucoronyl transferase 2
Bilirubin synthase
Heme synthase
Enzymes