What is the prevalence of Systemic Primary Carnitine Deficiency?
How many people does Systemic Primary Carnitine Deficiency affect? Does it have the same prevalence in men and women? And in the different countries?
Systemic Primary Carnitine Deficiency is a rare autosomal recessive disorder that affects the transport of carnitine into cells, leading to a deficiency of this essential nutrient. It is estimated to have a prevalence of approximately 1 in 40,000 individuals worldwide. The condition is more commonly observed in certain populations, such as the Faroe Islands and Saudi Arabia, where the prevalence can be as high as 1 in 1,200 individuals. Early diagnosis and treatment are crucial to prevent potential complications and manage symptoms associated with this metabolic disorder.
Systemic Primary Carnitine Deficiency (SPCD) is a rare autosomal recessive disorder that affects the body's ability to transport long-chain fatty acids into the mitochondria for energy production. It is caused by mutations in the SLC22A5 gene, which encodes the carnitine transporter protein.
The prevalence of SPCD varies among different populations. In general, it is estimated to affect approximately 1 in every 50,000 to 100,000 individuals worldwide. However, the prevalence may be higher in certain ethnic groups, such as the Faroe Islands and Saudi Arabia, where it has been reported to affect 1 in every 1,200 and 1 in every 5,000 individuals, respectively.
SPCD can present at any age, but symptoms typically appear during infancy or early childhood. Affected individuals may experience muscle weakness, low blood sugar levels, cardiomyopathy, and liver dysfunction. If left untreated, SPCD can lead to severe complications, including heart failure and sudden death.
Early diagnosis and treatment are crucial for managing SPCD. Treatment involves lifelong supplementation with oral or intravenous carnitine to restore normal carnitine levels in the body. With proper management, individuals with SPCD can lead relatively normal lives.
