06-27-2008, 02:52 PM
A 3 year old boy is diagnosed with megaloblastosis and hypochromic anemia with a Hg=4.7g/dL. Neither condition is responsive to vit b12, folate, pyrodoxine or iron administration. He also excrets urine that contains identified white needle shaped crystals.
Treatment with uridine correct the megaloblastosis, returns Hg to normal, and decr. the excretion of the urinary crystals.
Which of the following enzymes is most likely deficient in this child?
A- Aspartate carbomoyltransferase
B- Cytoplasmic carbomoyl-phosphate synthetase
C- Mitochondrial carbomoyl-phosphate synthetase
D- Ornithine carbomoyltransferase
E-Orotidine5'-phosphate decarboxylase
Treatment with uridine correct the megaloblastosis, returns Hg to normal, and decr. the excretion of the urinary crystals.
Which of the following enzymes is most likely deficient in this child?
A- Aspartate carbomoyltransferase
B- Cytoplasmic carbomoyl-phosphate synthetase
C- Mitochondrial carbomoyl-phosphate synthetase
D- Ornithine carbomoyltransferase
E-Orotidine5'-phosphate decarboxylase