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Elevated circulating very long-chain acylcarnitine concentration

MedGen UID:
1853266
•Concept ID:
C5872923
•
Finding
HPO: HP:0035022

Definition

Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher), [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating very long-chain acylcarnitine concentration

Recent clinical studies

Diagnosis

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
Elizondo G, Matern D, Vockley J, Harding CO, Gillingham MB
Mol Genet Metab 2020 Sep-Oct;131(1-2):90-97. Epub 2020 Sep 6 doi: 10.1016/j.ymgme.2020.09.001. PMID: 32928639Free PMC Article

Clinical prediction guides

Enhanced hepatic respiratory capacity and altered lipid metabolism support metabolic homeostasis during short-term hypoxic stress.
O'Brien KA, McNally BD, Sowton AP, Murgia A, Armitage J, Thomas LW, Krause FN, Maddalena LA, Francis I, Kavanagh S, Williams DP, Ashcroft M, Griffin JL, Lyon JJ, Murray AJ
BMC Biol 2021 Dec 15;19(1):265. doi: 10.1186/s12915-021-01192-0. PMID: 34911556Free PMC Article

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