Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

Molecular Aspects of Medicine
Jean-Paul BonnefontJean Bastin

Abstract

Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer (CPT1) and inner (CPT2) mitochondrial membranes. While CPT2 is an ubiquitous protein, three tissue-specific CPT1 isoforms--the so-called "liver" (CPT1-A), "muscle" (CPT1B) and <brain> (CPT1-C) CPT1s--have been shown to exist. Amino acid and cDNA nucleotide sequences have been identified for all of these proteins. CPT1-A deficiency presents as recurrent attacks of fasting hypoketotic hypoglycemia. Twenty four CPT1A mutations have been reported to date. CPT1-B and -C deficiencies have not been hitherto identified. CPT2 deficiency has several clinical presentations. The "benign" adult form (more than 200 families reported) is characterized by episodes of rhabdomyolysis triggered by prolonged exercise. The prevalent S113L mutation is found in about 50% of mutant alleles. The infantile-type CPT2 presents as severe attacks of hypoketotic hypoglycemia, occasionally associated with cardiac damage commonly responsible for sudden death before 1 year of age. In addition to these symptoms, features of brain and kidney dysorganogenesis are frequently seen in the...Continue Reading

Citations

Apr 9, 2008·Journal of Inherited Metabolic Disease·F Djouadi, J Bastin
Mar 3, 2010·Journal of Inherited Metabolic Disease·Sander Michel Houten, Ronald J A Wanders
Jul 30, 2010·Journal of Inherited Metabolic Disease·Saskia Koene, Jan Smeitink
May 5, 2011·Molecular and Cellular Biochemistry·Heather A HostetlerFriedhelm Schroeder
Nov 21, 2008·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Matthias Vorgerd
Jul 20, 2012·The British Journal of Nutrition·A AuingerJ Schrezenmeir
Aug 25, 2010·The Journal of Biological Chemistry·Isabelle GerinGuido T Bommer
Jul 28, 2006·The Journal of Biological Chemistry·Yu-Shan HsiaoLiang Tong
Apr 29, 2011·Toxicological Sciences : an Official Journal of the Society of Toxicology·Sophie LudwigRémi Bars
Sep 9, 2006·Clinical Chemistry and Laboratory Medicine : CCLM·Jason Y ParkMichael J Bennett
Jul 23, 2013·The Journal of Endocrinology·A SantilloG Chieffi Baccari
Jan 1, 2014·Clinical Lipidology·M Ryan IrvinDonna Arnett
Feb 25, 2014·Case Reports in Genetics·M VavlukisA J Dimovski
Jun 6, 2014·Orphanet Journal of Rare Diseases·Virginie AiresJean Bastin
Jul 20, 2014·Neurologic Clinics·Lydia J Sharp, Ronald G Haller
Dec 12, 2012·Annual Review of Medicine·Stuart W PeltzAllan Jacobson
Jun 2, 2012·Journal of Biomedicine & Biotechnology·O J NøstbakkenB E Torstensen
Sep 1, 2012·Herz·E C Wicks, P M Elliott
Jan 17, 2016·Biochimica Et Biophysica Acta·Juan García-RincónCarmen Beltrán
Feb 7, 2016·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Maija DambrovaEdgars Liepinsh
Apr 23, 2011·Expert Opinion on Drug Metabolism & Toxicology·David E Amacher
Mar 3, 2007·The Journal of Physiology·Francis B StephensPaul L Greenhaff
Apr 2, 2015·Clinical Genetics·F BoemerF-G Debray
Oct 24, 2012·Clinical Biochemistry·Sophia WongAndre Mattman
Jul 14, 2012·Advances in Pediatrics·Angela SunDerek A Wong

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Related Papers

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Nicola LongoMarzia Pasquali
Annual Review of Biochemistry
L L Bieber
Biochimica Et Biophysica Acta
R R RamsayF R van der Leij
© 2021 Meta ULC. All rights reserved