Cobalamin C Deficiency
The cobalamin C deficiency is an inherent error in the intracellular metabolism of cobalamin, which is presented in the form of methylmalonic aciduria and hyperhomocystinemia. It is a disorder of the organic acid and involves inability to break down and use fatty acids and some of the amino acids, from the food that we consume.
For our bodies to use the proteins we consume, they need to be broken down into smaller segments, referred to as amino acids. Further, some specific enzymes then convert these amino acids, so that they can be used by the body. Similarly fat needs to be broken down into fatty acids for the body to use them for the production of energy.
In this rare inherited disorder, one of the specific enzymes is dysfunctional or absent. This results in failure to convert Vitamin B12 into a form that the body can use. As a result of this the body fails to use the vitamin which in turn results in building up of harmful substances like homocystine and methylmalonic acid in the body, which in turn is associated with severe health problems.
Cobalamin C Deficiency Diet
Diet plays a crucial role in the management of the condition. The diet should be low in proteins. Further supplementation with Vitamin B12, L-carnitine and Betaine is recommended in some of the patients.
Cobalamin C Deficiency Treatment
Treatment comprises of the rigid dietary compliance to low protein diet, taking the requisite supplements. Avoiding fasting for prolonged period of time and regular consultation with the doctors is mandated for effective treatment of the condition.
Also see on EFA Deficiency