Differences
This shows you the differences between two versions of the page.
Next revision | Previous revisionLast revisionBoth sides next revision | ||
content:acycarnitines [2020/02/16 17:44] – created icna | content:acycarnitines [2020/02/16 17:59] – icna | ||
---|---|---|---|
Line 1: | Line 1: | ||
====== Acylcarnitines ====== | ====== Acylcarnitines ====== | ||
- | Acute myopathy, rhabdomyolysis. Unexplained | + | {{tag> |
+ | ==== Indications ==== | ||
+ | suspected fatty acid oxidation disorders, acute myopathy, rhabdomyolysis, unexplained | ||
==== Notes ==== | ==== Notes ==== | ||
+ | * diagnostic results are usually characterized by a pattern of significantly elevated acylcarnitine species compared to normal and disease controls. | ||
* serum acylcarnitines are useful in the diagnosis of fatty acid oxidation disorders and several organic acidurias | * serum acylcarnitines are useful in the diagnosis of fatty acid oxidation disorders and several organic acidurias | ||
- | * also useful in evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias | + | * serum acylcarnitines |
* specific acylcarnitines indicate particular disorders, e.g. octanoyl carnitine in [[MCAD deficiency]], | * specific acylcarnitines indicate particular disorders, e.g. octanoyl carnitine in [[MCAD deficiency]], | ||
+ | * abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease | ||
+ | * to verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical (eg, in vitro enzyme assay) or molecular genetic analyses are required. | ||
- | ^ ^ ^ | + | ==== Pathophysiology ==== |
- | | < or =7 days (nmol/ | + | Fatty acid oxidation |
- | | | | | + | |
- | | 8 days-7 years | 8 days-7 years | | + | |
- | | | | | + | |
- | | (nmol/ | + | |
- | | | | | + | |
- | | > or =8 years | > or =8 years | | + | |
- | | | | | + | |
- | | (nmol/mL) | (nmol/ | + | |
- | | | | | + | |
- | | Acetylcarnitine, | + | |
- | | | | | + | |
- | | 2.14-15.89 | + | |
- | | | | | + | |
- | | 2.00-27.57 | + | |
- | | | | | + | |
- | | 2.00-17.83 | + | |
- | | | | | + | |
- | | Acrylylcarnitine, C3:1 | Acrylylcarnitine, C3:1 | | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Propionylcarnitine, C3 | Propionylcarnitine, | + | |
- | | | | | + | |
- | | <0.55 | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Formiminoglutamate, FIGLU | Formiminoglutamate, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Iso-/ | + | |
- | | | | | + | |
- | | <0.46 | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Tiglylcarnitine, C5:1 | Tiglylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Isovaleryl-/2-Methylbutyrylcarn C5 | Isovaleryl-/2-Methylbutyrylcarn C5 | | + | |
- | | | | | + | |
- | | <0.38 | <0.38 | | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-iso-/butyrylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Hexenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Hexanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-isovalerylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Benzoylcarnitine | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Heptanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-hexanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Phenylacetylcarnitine | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Salicylcarnitine | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Octenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Octanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Malonylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Decadienoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Decenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Decanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Methylmalonyl-/succinylcarn, | + | |
- | | | | | + | |
- | | <0.05 | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-decenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Glutarylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Dodecenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Dodecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-Methylglutarylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-dodecenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-dodecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Tetradecadienoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Tetradecenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Tetradecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Octanedioylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-tetradecenoylcarnitine C14: | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-tetradecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Hexadecenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Hexadecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-hexadecenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-hexadecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Octadecadienoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Octadecenoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Octadecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | Dodecanedioylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-octadecadienoylcarn, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-octadecenoylcarnitine C18: | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | 3-OH-octadecanoylcarnitine, | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
- | | | | | + | |
- | | < | + | |
+ | ==== Reference values ==== | ||
+ | <table refvalues> | ||
+ | ^ ^ 8 days-7 years ^ > or =8 years | | | ||
+ | | < or =7 days (nmol/ | ||
+ | | Acetylcarnitine, | ||
+ | | Acrylylcarnitine, | ||
+ | | Propionylcarnitine, | ||
+ | | Formiminoglutamate, | ||
+ | | Iso-/ | ||
+ | | Tiglylcarnitine, | ||
+ | | Isovaleryl-/ | ||
+ | | 3-OH-iso-/ | ||
+ | | Hexenoylcarnitine, | ||
+ | | Hexanoylcarnitine, | ||
+ | | 3-OH-isovalerylcarnitine, | ||
+ | | Benzoylcarnitine | ||
+ | | Heptanoylcarnitine, | ||
+ | | 3-OH-hexanoylcarnitine, | ||
+ | | Phenylacetylcarnitine | ||
+ | | Salicylcarnitine | ||
+ | | Octenoylcarnitine, | ||
+ | | Octanoylcarnitine, | ||
+ | | Malonylcarnitine, | ||
+ | | Decadienoylcarnitine, | ||
+ | | Decenoylcarnitine, | ||
+ | | Decanoylcarnitine, | ||
+ | | Methylmalonyl-/ | ||
+ | | 3-OH-decenoylcarnitine, | ||
+ | | Glutarylcarnitine, | ||
+ | | Dodecenoylcarnitine, | ||
+ | | Dodecanoylcarnitine, | ||
+ | | 3-Methylglutarylcarnitine, | ||
+ | | 3-OH-dodecenoylcarnitine, | ||
+ | | 3-OH-dodecanoylcarnitine, | ||
+ | | Tetradecadienoylcarnitine, | ||
+ | | Tetradecenoylcarnitine, | ||
+ | | Tetradecanoylcarnitine, | ||
+ | | Octanedioylcarnitine, | ||
+ | | 3-OH-tetradecenoylcarnitine C14: | ||
+ | | 3-OH-tetradecanoylcarnitine, | ||
+ | | Hexadecenoylcarnitine, | ||
+ | | Hexadecanoylcarnitine, | ||
+ | | 3-OH-hexadecenoylcarnitine, | ||
+ | | 3-OH-hexadecanoylcarnitine, | ||
+ | | Octadecadienoylcarnitine, | ||
+ | | Octadecenoylcarnitine, | ||
+ | | Octadecanoylcarnitine, | ||
+ | | Dodecanedioylcarnitine, | ||
+ | | 3-OH-octadecadienoylcarn, | ||
+ | | 3-OH-octadecenoylcarnitine C18: | ||
+ | | 3-OH-octadecanoylcarnitine, | ||
+ | < | ||
+ | </ |