Carnitine Transporter Deficiency

Hi,

We are doing this blog as part of our Medical Biochemistry Project. This is a blog about Carnitine Transporter Deficiency (CTD). This disease is classified under Fatty Acid Oxidation Disorder. Our blog will give you more informations about this disease.

We will be discussing about:

• Genetic Information
• Disease Identification
• Metabolic information
• Treatment
• Prevention
• Summary (Links to find more information)

Carnitine Transporter Deficiency is a result of absence or dysfunctional Carnitine Transporter (Enzyme). When the gene that codes for the enzyme is mutated the enzyme is either not synthesized or is not working well.

The function of this enzyme, Carnitine Transporter, is to transport Carnitine into cell. Then this Carnitine will transport Long Fatty Acid into mitochondrial matrix. This process is very important when the glucose (primary sugar) is low. Our body will use fats as an alternative for energy. However due to the mutation  there is no Carnitine Transporter to transport carnitine into the cell. Without carnitine, fatty acid cannot enter the mitochondrial matrix. As mitochondrial matrix is impermeable to fatty acid chain. As a result, fatty acid chain cannot be converted into energy for the body’s use.

The Process

This video will give you a very brief introduction to what we are going to discuss in our blog.