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bn:01372198n
Noun Concept
Categories: Hepatology, Fatty-acid metabolism disorders, Autosomal recessive disorders
EN
systemic primary carnitine deficiency  renal carnitine transport defect  Carnitin Transporter Deficiency  carnitine deficiency  Carnitine Deficiency, Primary
EN
Systemic primary carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Wikipedia
Definitions
Relations
Sources
EN
Systemic primary carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Wikipedia
Amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy Wikidata
IS A
rare disease
GENETIC ASSOCIATION
SLC22A5
HEALTH SPECIALTY
endocrinology
Wikipedia
EN
systemic primary carnitine deficiency
Wikidata
EN
Systemic primary carnitine deficiency
Wikipedia Redirections
EN
Carnitin Transporter Deficiency, carnitine deficiency, carnitine transporter deficiency, Carnitine uptake defect, Carnitine uptake deficiency, Deficiency of plasma-membrane carnitine transporter, Hereditary carnitine deficiency, Muscle carnitine palmityltransferase deficiency, primary carnitine deficiency, Renal carnitine transport defect, Systemic carnitine deficiency
Wikidata Alias
EN
Carnitine Deficiency, Primary, Carnitine Deficiency, Systemic, Due to Defect 1N Renal Reabsorption of Carnitine, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP, Carnitine Transporter, Plasma-Membrane, Deficiency of, Carnitine transporter defect, carnitine transporter deficiency, carnitine uptake defect, Carnitine uptake deficiency, CDSP, CTD, SPCD, CUD, deficiency of plasma-membrane carnitine transporter, primary carnitine deficiency, renal carnitine transport defect, SPCD, Systemic Carnitine Deficiency, Systemic primary carnitine deficiency, systemic primary carnitine deficiency disease

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