Question

1. A patient goes to a doctor because they are feeling extremely lethargic. Blood work is done and it is determined that after a 12 hour fast that they have hypoketotic hypoglycemia (low blood sugar in the absence of ketone bodies). Further analysis also indicates that they have high levels of medium chain acyl CoA molecules (6-12C long).
   1. What enzyme is likely to be deficient and/or mutated?
2. 2. How does a deficiency of this enzyme explain all of the symptoms listed above?

Answer 1

The state of hypoketotic and hypoglycemia is because of the insufficiency of carnitine acyl carnitine translocase catalyst , this is uncommon autosomal passive acquired turmoil, in which diverse side effects like extension of liver hepatomegaly, ill-advised heart work called cardiomyopathy, hyper smelling salts levels , unexpected newborn child demise, hypoglycemia, hypoketotic and so forth are side effects , with qualities fever, weight reduction, shortcoming, muscle delicacy, seizures, sporadic heart beat, awkward relaxing.

The protein carnitine acyl carnitine translocase inadequate because of ill-advised quality capacity, this makes impermeable of long chain unsaturated fats through mitochondrial film, so handling get blocked.

The carnitine is characteristic eating regimen supplement, which isn't handled because of chemical glitch.