These questions can be a true pain of biochemistry on the Step 1 or relatively straightforward depending on how well you know it. This patient has classical Galactosemia, caused by a deficiency in galactose-1-P uridyl transferase deficiency, the enzyme that converts galactose and lactose to glucose. Intolerance to dairy, hepatomegaly/liver disease/jaundice with hypoglycemia due to decreased gluconeogenesis, and reducing substances in urine are classic. Listlessness and lethargy ensue with mental retardation and eventually death if untreated. Cataracts are also common. If you didnโt get to galactosemia (or thought it was Von Gierkeโs disease, which isnโt all that unreasonable), the answer is still A. By process of elimination, given the serum hypoglycemia but no urine glucose, the issue is the inability to make glucose from stores (not to absorb it).
submitted by โbwdc(697)
These questions can be a true pain of biochemistry on the Step 1 or relatively straightforward depending on how well you know it. This patient has classical Galactosemia, caused by a deficiency in galactose-1-P uridyl transferase deficiency, the enzyme that converts galactose and lactose to glucose. Intolerance to dairy, hepatomegaly/liver disease/jaundice with hypoglycemia due to decreased gluconeogenesis, and reducing substances in urine are classic. Listlessness and lethargy ensue with mental retardation and eventually death if untreated. Cataracts are also common. If you didnโt get to galactosemia (or thought it was Von Gierkeโs disease, which isnโt all that unreasonable), the answer is still A. By process of elimination, given the serum hypoglycemia but no urine glucose, the issue is the inability to make glucose from stores (not to absorb it).