SNP Shot: Genomic Insights

Primary carnitine deficiency is a disorder that impairs the body's ability to utilize certain fats for energy, especially when the body is fasting. Carnitine, a naturally occurring compound obtained primarily through food, is essential for cells to process fats and generate energy.

The signs and symptoms of primary carnitine deficiency usually manifest in infancy or early childhood. These can include significant brain impairment (encephalopathy), an enlarged and weakened heart (cardiomyopathy), disorientation, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The intensity of this condition differs from person to person. Some individuals with primary carnitine deficiency show no symptoms at all. However, all affected individuals are susceptible to heart failure, liver complications, coma, and sudden death.

Fasting or illnesses like viral infections can trigger complications related to primary carnitine deficiency. This condition is sometimes misdiagnosed as Reye's syndrome, a serious disorder that can occur in children recovering from viral infections like chickenpox or influenza. The majority of Reye's syndrome cases are linked to aspirin use during these viral infections.

Inheritance:

Primary carnitine deficiency is inherited through an autosomal recessive pattern. This means that both copies of the responsible gene in each cell must have mutations for the disorder to occur. Typically, the parents of someone with an autosomal recessive condition are carriers, meaning they each possess one copy of the altered gene. Carriers of SLC22A5 gene mutations may experience some mild signs and symptoms associated with the condition.