• CPT2 may refer to: Carnitine palmitoyltransferase II, an important metabolic enzyme. (wikipedia.org)
  • Carnitine palmitoyltransferase II deficiency, a condition that prevents the body from converting certain fats into energy Killarney Airport, CPT2 ICAO airport code, located in Killarney, Ontario, Canada This disambiguation page lists articles associated with the same title formed as a letter-number combination. (wikipedia.org)
  • Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. (univ-lille.fr)
  • CPT II deficiency is caused by pathogenic variants in the CPT2 gene, and this condition is inherited in an autosomal recessive manner. (cincinnatichildrens.org)
  • CPT II deficiency is caused by problems with an enzyme called "carnitine palmitoyl transferase 2" (CPT2). (newbornscreening.info)
  • However, a lack of abnormalities or specificity in this profile is not exclusive of CPT2 deficiency. (univ-lille.fr)
  • CHA hospitalist explains how she helped to care for a patient with an unusual CPT2 deficiency, leading to a positive patient outcome. (challiance.org)
  • However, during an episode CPT2 patients experience muscle pain, rhabdomyolysis, myoglobinuria and other unpleasant symptoms. (cpt2.me)
  • All mitochondrial markers, including Ppargc1a, Tfam, Cpt2, and electron transport chain genes, were upregulated in T2DM group compared to controls with no significant changes in the ATP levels. (biomedcentral.com)
  • SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer. (nih.gov)
  • Whole Exome Sequencing finally identified the diagnosis as CPT2, not McArdle's. (agsd.org.uk)
  • I will use this blog to periodically describe my experiences with CPT2 in the hopes that others with the disorder will find it useful. (cpt2.me)
  • I was scheduled to have my tonsils removed, but given the malignent hyperthermia risk with anesthetic for CPT2 patients, that surgery never got scheduled. (cpt2.me)
  • But I'm willing to bet that I was maybe the 10th FOD patient they'd ever had, and the only CPT2 patient they'd ever had. (cpt2.me)
  • CPT2 has very similar symptoms to McArdle's, but the energy deficit hits later on in activity. (agsd.org.uk)
  • The following product was used in this experiment: CPT2 Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5-109587, RRID AB_2854998. (thermofisher.com)
  • Samples were incubated with CPT2 Polyclonal antibody (Product # PA5-109587) using a dilution of 1:50 (40x lens). (thermofisher.com)
  • Carnitine palmitoyltransferase II deficiency, a condition that prevents the body from converting certain fats into energy Killarney Airport, CPT2 ICAO airport code, located in Killarney, Ontario, Canada This disambiguation page lists articles associated with the same title formed as a letter-number combination. (wikipedia.org)
  • CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (medlineplus.gov)
  • The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. (medlineplus.gov)
  • The most common CPT2 gene mutation replaces the protein building block (amino acid) serine with the amino acid leucine at position 113 (written as Ser113Leu or S113L) in the enzyme. (medlineplus.gov)
  • Mutations in the CPT2 gene reduce the activity of carnitine palmitoyltransferase 2. (nih.gov)
  • The scientists also selectively knocked out one copy of a gene called CPT2 in the T cells of a separate set of mice with mutated Trp53 genes. (nih.gov)
  • CPT2 is critical for fatty acid oxidation, and mice with a Trp53 mutation whose T cells also had only one working copy of the CPT2 gene had reduced fatty acid oxidation in those cells and lived roughly 30 percent longer than mice with mutated Trp53 genes and the normal set of two intact CPT2 genes. (nih.gov)
  • Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados. (igenomix.com)
  • This was shown to result from upregulation of CPT2 mRNA and increased protein levels. (medscape.com)
  • Loss of HRD1 results in elevated ENTPD5, CPT2, RMND1, and HSD17B4 protein levels and a consequent hyperactivation of both AMPK and AKT pathways. (nih.gov)
  • A synthetic peptide corresponding to amino acids 100-200 of human CPT2. (thermofisher.com)
  • In between episodes, life with CPT2 is very normal. (cpt2.me)
  • El líquido amniótico normal varía, en promedio puede alcanzar hasta 800-1000 ml. (igenomix.com)