MeSH Browser

MeSH Supplementary: Systemic carnitine deficiency
Unique ID: C536778
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536778
Entry Term(s): Carnitine Transporter Deficiency; Carnitine Uptake Deficiency; Carnitine deficiency, primary; Carnitine deficiency, systemic primary; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine transporter, plasma-membrane, deficiency of; Carnitine uptake defect; Primary Carnitine Deficiency; Renal Carnitine Transport Defect
Registry Numbers: 0
Heading Mapped to: Carnitine / deficiency; *Muscular Diseases; *Cardiomyopathies; *Hyperammonemia
Frequency: 131
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Systemic carnitine deficiency MeSH Supplementary Concept Data 2024