Summary

46 Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). the nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. some individuals may only have fatigability in adulthood, or no symptoms at all. this condition is caused by mutations in the slc22a5 gene and is inherited in an autosomal recessive manner. treatment and prevention of symptoms typically includes oral l-carnitine supplementation

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait