Question

You are overseeing a person who has developed seizures following a prolonged fast. Which of the following could explain this observation?

	A.	Mutation in acetyl-CoA carboxylase (ACC) that precludes binding of citrate to the enzyme’s regulatory domain
	B.	Mutation in pancreatic lipase that inhibits its activity
	C.	Mutation in the Glut45 transporter at the blood brain barrier that inhibits its activity
	D.	Mutation in HMG-CoA lyase that inhibits its activity
	E.	Mutation in the low density lipoprotein (LDL) receptor that increases its degradation in lysosomes

Answer 1

Such kind of event occurs in Ramadan, when people keep 14-18 hour long fasting and encounters this kind of episodes. In ACC act on biotin based nutrition and a mutation in ACC will alter the metabolism and utilization of biotin present in the food, which bind to the citrate, whereas pancreatic lipase for the fat and LDL receptors for the cholesterol. During the fasting practice, if a person with compromised receptors for the glucose utilization, which is very crucial for the proper functioning of the brain. Glut is transporter for glucose. Therefore, correct answer is “C. Mutation in the Glut45 transporter at the blood brain barrier that inhibits its activity”