Carnitine - MeSH

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Select item 680023311.

A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.

Year introduced: 1966(1964)

Select item 680023342.

Carnitine O-Palmitoyltransferase

An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. EC 2.3.1.21.

Year introduced: 1998(1975)

Select item 680023333.

Carnitine Acyltransferases

Acyltransferases in the inner mitochondrial membrane that catalyze the reversible transfer of acyl groups from acyl-CoA to L-carnitine and thereby mediate the transport of activated fatty acids through that membrane. EC 2.3.1.

Year introduced: 1991(1975)

Select item 680023324.

Carnitine O-Acetyltransferase

An enzyme that catalyzes the formation of O-acetylcarnitine from acetyl-CoA plus carnitine. EC 2.3.1.7.

Year introduced: 1998(1975)

Select item 675367785.

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

Date introduced: August 25, 2010

Select item 20232396.

Solute Carrier Family 22 Member 5

A high-affinity, ATP-binding, co-transporter for CARNITINE that is highly expressed in kidney, skeletal muscle, heart, and placental tissues. It transports one sodium ion with one carnitine molecule. It has a lower affinity for other organic cations and transports them independently of sodium. Mutations in the SLC22A5 gene are associated with systemic carnitine deficiency.

Year introduced: 2018

Select item 675355887.

Carnitine palmitoyl transferase 1A deficiency [Supplementary Concept]

Date introduced: August 25, 2010

Select item 675355898.

Carnitine palmitoyl transferase 2 deficiency [Supplementary Concept]

Three autosomal recessive forms of this disorder caused by mutations in the CPT2 gene occur: The lethal neonatal form (OMIM: 608836) is characterized by RESPIRATORY FAILURE; SEIZURES; LIVER FAILURE; CARDIOMYOPATHY, and ARRHYTHMIA and is fatal in the first few days or months of life. The infantile form (OMIM: 600649) also affects the heart, liver, and muscles and can result in severe symptoms or death during FASTING or VIRAL INFECTION. The most common myopathic form (OMIM: 255110) occurs in young adults and is characterized by recurrent episodes of RHABDOMYOLYSIS triggered by prolonged exercise, fasting, or febrile illness.

Date introduced: August 25, 2010

Select item 680001089.

Acetylcarnitine

An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS.

Year introduced: 1991(1978)

Select item 6705931110.

10-iodostearyl carnitine [Supplementary Concept]

potential as a perfusion & metabolic imaging agent for the heart

Date introduced: May 30, 1989

Select item 6705931011.

9-iodostearyl carnitine [Supplementary Concept]

potential as a perfusion & metabolic imaging agent for the heart

Date introduced: May 30, 1989

Select item 6756346312.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal [Supplementary Concept]

mutation in CPT2