What Is Primary Carnitine Deficiency?
Primary carnitine deficiency (PCD) is a genetic disorder which is marked by abnormal body metabolism. Specifically, those who suffer from PCD either cannot metabolize fats in a manner that allows them to be converted into energy or they metabolize so poorly that little energy is produced. Normally, in the fat conversion process, cells use carnitine, which is a compound that is present in most foods, to help carry out the process. In individuals who are affected with PCD, defects in, or absence of, a protein that normally serves to shuttle carnitine within cells prevents the fat-to-energy conversion process from being properly carried out.
The failure to properly metabolize fats can lead to many severe symptoms. For example, PCD-affected individuals typically experience one or more of the following:
- brain injury (which often affects all regions of the brain and causes problems such as confusion and reduced intellectual ability)
- an swollen heart that has a reduced capacity to pump blood
reduced blood sugar levels (hypoglycemia)
- muscle fatigue
- nausea and vomiting
In the worst cases, heart failure, coma, and even death can result. Symptoms often become exacerbated whenever the PCD sufferer does not eat enough or becomes inflicted with a viral infection. Unfortunately, options for treating PCD symptoms are limited, which means that PCD sufferers are largely at the mercy of the disorder.
Although PCD is relatively rare outside of the Japanese population (it affects an estimated 1 in every 100,000 non-Japanese individuals), it is somewhat more common among Japanese people (about 1 in every 40,000 Japanese individuals suffers from PCD).