- Very high total cholesterol, elevated LDL , Normal level of LDL receptors. What is the probable cause ? ( May
a) ApoB100 mutation
b) Complete deficiency of Lipoprotein lipase
c) Cholesterol acyl transferase deficiency
7.A 6 month old boy admitted with failure to thrive with high glutamine and Uracil in urine
Hypoglycemia, high blood ammonia.Treatment given for 2 months. At 8 months again admitted for failure to gain weight.Gastric tube feeding was not tolerated Child became comatose .Parenteral Dextrose given. Child recovered from coma within 24 hours.What is the enzyme defect? ( May 2015)
a) CPS1
b) Ornitine transcarbamoylase
c) Arginase
d).arginino Succinate Synthetase
Clue to the diagnosis are
High glutamine content as it is the transporter of Ammonium ion,it is elevated in Hyperammonemia
Uracil in urine-because in OTC defect increased Carbamoyl derivative,enter in to cytoplasm enter in to
pyrimidine synthesis.hence increased Orotic acid ,Uracil etc
If the child presents with weakness,megaloblastic anaemia increased orotic acid or any carbamoyl
compounds etc and no hyperammonemia the diagnosis is Orotic aciduria due to Pyrimidine synthesis
enzyme defect(OPRTase & OMP Decarboxylase)
8.10yrs old boy with muscle weakness, fatigue ,increased lead in blood , which of following a biochemical parameter
is increased ? ( May 2015)
a) ALA synthase
b) Ferrochetalase
c) PBG deaminase
d) delta Amino Levulinic Acid Dehydratase
Lead intoxication…….>ALA Dehydratase inhibited………>Heme is not synthesid………>Decreased Heme induces
ALA Synthase enzyme level at genetic level……>So ALA Synthase increased