Workup
Serum
- Hypoglycemia
Liver problems can lead to episodes of hypoglycemia. Infections are often the trigger for these episodes. Severe hypoglycemia can lead to coma and death if not treated right away with a sugar called dextrose. [cedars-sinai.org]
Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and muscles. [medlineplus.gov]
Treatment
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you. Know why a new medicine or treatment is prescribed, and how it will help you. [cedars-sinai.org]
Pathophysiology
Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis. 2003;26(2-3):147-69. Review. Citation on PubMed Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. [medlineplus.gov]
Prevention
Description Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). [medlineplus.gov]
This can help prevent many of the symptoms of the disease. If you have the primary condition, you will probably need to take L-carnitine for the rest of your life. [cedars-sinai.org]