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Systemic carnitine deficiency MeSH Supplementary Concept Data 2025


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 Preferred
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