md90
04-26-2006, 03:47 PM
two sisters diagnosed with hemolytic anemia; older brother previously diagnosed with same disorder; two other brothers are asymptomatic; mom and dad are second cousins; Deficiency of what enzyme caused the disorder?
1. Debranching enzyme
2. G6P
3. G6PD
4. Pyruvate kinase
5. Muscle phosphorylase
#4: pyruvate kinase, why? when you think of hemolytic anemia, think of two pathways: Glycolysis and HMP shunt. Only two enzymes are involved in these two pathways: Pyruvate kinase and G6PD; G6PD is x-linked therefore females would not be affected; whereas pyruvate kinase deficiency is autosomal recessive affecting both sexes equally; Debranching enzyme is mainly with Cori's; G6P=Von Gierke's Disease; and Muscle phosphorylase is McArdle's...
NOW, I need to eat.. need fuel for the brain... take care everyone... :p
1. Debranching enzyme
2. G6P
3. G6PD
4. Pyruvate kinase
5. Muscle phosphorylase
#4: pyruvate kinase, why? when you think of hemolytic anemia, think of two pathways: Glycolysis and HMP shunt. Only two enzymes are involved in these two pathways: Pyruvate kinase and G6PD; G6PD is x-linked therefore females would not be affected; whereas pyruvate kinase deficiency is autosomal recessive affecting both sexes equally; Debranching enzyme is mainly with Cori's; G6P=Von Gierke's Disease; and Muscle phosphorylase is McArdle's...
NOW, I need to eat.. need fuel for the brain... take care everyone... :p