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
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.