Short answer · Medically reviewed summary · Last updated: 2023-07-13
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.
What is the prevalence of Systemic Primary Carnitine Deficiency?
Prevalence of Systemic Primary Carnitine Deficiency: how many people are affected worldwide, differences by sex and region, with sources.
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.
