What is Systemic Primary Carnitine Deficiency

Systemic Primary Carnitine Deficiency (SPCD) is a rare genetic disorder that affects the body's ability to transport long-chain fatty acids into the cells for energy production. This condition is caused by mutations in the SLC22A5 gene, which is responsible for producing a protein called carnitine transporter OCTN2. The deficiency of this transporter leads to a reduced uptake of carnitine from the bloodstream into various tissues, including the heart, liver, and muscles.

SPCD typically manifests in infancy or early childhood and can present with symptoms such as low blood sugar (hypoglycemia), muscle weakness, cardiomyopathy, and liver dysfunction. If left untreated, it can result in life-threatening complications, including heart failure and sudden death.

Diagnosis of SPCD involves measuring carnitine levels in the blood and genetic testing to identify mutations in the SLC22A5 gene. Treatment primarily involves lifelong supplementation of oral carnitine to maintain adequate levels in the body. This helps improve energy production and prevent the progression of symptoms.

Early detection and prompt treatment are crucial in managing SPCD. Regular monitoring and medical follow-up are necessary to ensure optimal management and prevent potential complications.