Systemic carnitine deficiency [Supplementary Concept]

A heriditary autosomal recessive disorder caused by mutations in the high-affinity carnitine transporter (SLC22A5 gene) that is expressed in muscle, heart, kidney, LYMPHOBLASTS, and FIBROBLASTS. This results in impaired fatty acid oxidation in skeletal and heart muscle. Renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine . It can be treated by supplementation of carnitine in early stages, but will result in lethal heart failure if untreated. OMIM: 212140

MeSH Unique ID: C536778

Heading Mapped to:

• Carnitine/deficiency
• Muscular Diseases
• Cardiomyopathies
• Hyperammonemia

Entry Terms:

• Carnitine deficiency, systemic primary
• Carnitine uptake defect
• Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
• Carnitine deficiency, primary
• Carnitine transporter, plasma-membrane, deficiency of
• Primary Carnitine Deficiency
• Carnitine Transporter Deficiency
• Carnitine Uptake Deficiency
• Renal Carnitine Transport Defect