Grenoble est désormais en mesure de proposer un bilan complet du métabolisme intermédiaire et peut répondre de ce fait à l ,
Mitochondrial betaoxidation of fatty acids: an essential metabolic pathway of muscular function, Arch Pediatr ,
Evaluation a priori de l'extension du dépistage néonatal à une ou plusieurs erreurs innées du métabolisme par la technique de spectrométrie de masse en tandem en population générale en France 1er volet : dépistage du déficit en MCAD. Recommandations en santé publique ,
Hoppe-Seyler's Zeitschrift für physiologische Chemie, Sendju Y. Uber die Oxyaminoverbindungen, welche die Biuretreaktion ziegen. III. Spaltung der m-amino-b-oxybuttersaure in die optisch-aktiven Komponenten, pp.326-330, 1905. ,
The identity of vitamin BT with carnitine Chemical studies on vitamin BT isolation and characterization as carnitine, Arch Biochem Biophys Arch Biochem Biophys. Juill, vol.1693538, issue.1, pp.263-277241, 1927. ,
The effect of muscle extracts on the oxidation of palmitic acid by liver slices and homogenates, R. On the absolute configuration of L-carnitine (vitamine BT), pp.367-385, 1955. ,
Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome, Science, vol.179, issue.4076, pp.899-902, 1973. ,
DOI : 10.1126/science.179.4076.899
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria, Science, vol.182, issue.4115, pp.929-931, 1973. ,
DOI : 10.1126/science.182.4115.929
Primary and secondary disorders of carnitine. International pediatrics : the journal of the Miami Children's Hospital, p.8, 1990. ,
Carnitine function and requirements during the life cycle, FASEB J. Déc, vol.6, issue.15, pp.3379-3386, 1992. ,
Carnitine: a nutritional, biosynthetic, and functional perspective, Molecular Aspects of Medicine, vol.25, issue.5-6, pp.5-6455, 2004. ,
DOI : 10.1016/j.mam.2004.06.006
Carnitine biosynthesis in mammals, Biochemical Journal, vol.361, issue.3, pp.417-429, 2002. ,
DOI : 10.1042/bj3610417
Role of carnitine in disease, Nutrition & Metabolism, vol.7, issue.1, p.30, 2010. ,
DOI : 10.1186/1743-7075-7-30
Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2, Journal of Biological Chemistry, vol.273, issue.32, pp.20378-20382, 1998. ,
DOI : 10.1074/jbc.273.32.20378
Regulation of plasma fatty acid metabolism, Clinica Chimica Acta, vol.286, issue.1-2 ,
DOI : 10.1016/S0009-8981(99)00099-6
A general introduction to the biochemistry of mitochondrial fatty acid ??-oxidation, Journal of Inherited Metabolic Disease, vol.297, issue.Suppl 1, pp.469-477, 2010. ,
DOI : 10.1007/s10545-010-9061-2
L-Carnitine and Isovaleryl L-Carnitine Fumarate Positively Affect Human Osteoblast Proliferation and Differentiation In Vitro, Calcified Tissue International, vol.279, issue.6, pp.458-465, 2005. ,
DOI : 10.1007/s00223-004-0147-4
The Mitochondrial Carnitine Palmitoyltransferase System - From Concept to Molecular Analysis, European Journal of Biochemistry, vol.281, issue.1, pp.1-14, 1997. ,
DOI : 10.1016/0163-7827(95)00011-9
The role of carnitine in normal and altered fatty acid metabolism, American Journal of Kidney Diseases, vol.41, issue.4, pp.4-12, 2003. ,
DOI : 10.1016/S0272-6386(03)00112-4
Role of carnitine and carnitine palmitoyltransferase as integral components of the pathway for membrane phospholipid fatty acid turnover in intact human erythrocytes, J Biol Chem. Juin, vol.267, issue.18, pp.12673-12681, 1992. ,
Der Abbau aromatischer Fettsäuren im Tierkörper, Beitr Chem Physiol Pathol, vol.6, pp.150-162, 1904. ,
Pathophysiology of fatty acid oxidation disorders, Journal of Inherited Metabolic Disease, vol.25, issue.5, pp.533-537, 2010. ,
DOI : 10.1007/s10545-010-9170-y
Inborn Metabolic Diseases: diagnosis and treatment; 4ème édition, p.561, 2006. ,
http://pedagogie.ac-montpellier.fr/Disciplinesstibiotechn documents/Fiche_corps_cetoniques.pdf (consulté en juillet, 2011. ,
Voyage en biochimie : Circuits en biochimie humaine, nutritionnelle et métabolique, p.72, 2004. ,
Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency, Human Molecular Genetics, vol.8, issue.12, pp.2247-2254, 1999. ,
DOI : 10.1093/hmg/8.12.2247
Carnitine Deficiency Disorders in Children, Annals of the New York Academy of Sciences, vol.93, issue.1, pp.42-51, 2004. ,
DOI : 10.1196/annals.1320.004
Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy, Pediatric Research, vol.28, issue.3, pp.247-255, 1990. ,
DOI : 10.1203/00006450-199009000-00020
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency, Molecular Genetics and Metabolism, vol.77, issue.3, pp.195-201, 2002. ,
DOI : 10.1016/S1096-7192(02)00169-5
Clinical Effects of L-Carnitine Supplementation on Apnea and Growth in Very Low Birth Weight Infants, PEDIATRICS, vol.111, issue.3, pp.477-482, 2003. ,
DOI : 10.1542/peds.111.3.477
The use of levo-carnitine in children with renal disease: a review and a call for future studies, Pediatric Nephrology, vol.17, issue.3, pp.308-317, 2006. ,
DOI : 10.1007/s00467-005-2085-4
Deficiency of Carnitine in Cachectic Cirrhotic Patients, Journal of Clinical Investigation, vol.60, issue.3, pp.716-723, 1977. ,
DOI : 10.1172/JCI108824
L-Carnitine in Dialysis Patients, Seminars in Dialysis, vol.10, issue.suppl 2, pp.209-217, 2001. ,
DOI : 10.1046/j.1525-139X.2001.00055.x
Plasma carnitine levels in patients receiving home parenteral nutrition, Am J Clin Nutr. Janv, vol.43, issue.1, pp.85-91, 1986. ,
Low availability of carnitine precursors as a possible reason for the diminished plasma carnitine concentrations in pregnant women, BMC Pregnancy and Childbirth, vol.50, issue.1, pp.10-17, 2010. ,
DOI : 10.1097/GRF.0b013e31815a5494
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review, Journal of Inherited Metabolic Disease, vol.48, issue.3, pp.205-216, 2008. ,
DOI : 10.1007/s10545-008-0841-x
Mechanisms of Zidovudine-Induced Mitochondrial Toxicity and Myopathy, Pharmacology, vol.82, issue.2, pp.83-88, 2008. ,
DOI : 10.1159/000134943
Carnitine deficiency associated with long-term pivampicillin treatment: the effect of a replacement therapy regime., Postgraduate Medical Journal, vol.68, issue.805, pp.932-934, 1992. ,
DOI : 10.1136/pgmj.68.805.932
Cancer and anticancer therapy-induced modifications on metabolism mediated by carnitine system, Journal of Cellular Physiology, vol.33, issue.3, pp.339-350, 2000. ,
DOI : 10.1002/(SICI)1097-4652(200003)182:3<339::AID-JCP4>3.0.CO;2-B
Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts, Science, vol.221, issue.4605, pp.73-75, 1983. ,
DOI : 10.1126/science.6857268
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine Levels, Pediatric Research, vol.17, issue.11, pp.877-884, 1983. ,
DOI : 10.1203/00006450-198311000-00008
An overview of beta-oxidation disorders, Postepy Hig Med Dosw (Online), vol.63, pp.266-277, 2009. ,
Mitochondrial Fatty-Acid Oxidation Disorders, Seminars in Pediatric Neurology, vol.15, issue.3, pp.140-149, 2008. ,
DOI : 10.1016/j.spen.2008.05.008
Recognition and management of fatty acid oxidation defects: a series of 107 patients, J Inherit Metab Dis. Juin, vol.22, issue.4, pp.488-502, 1999. ,
including In Vitro loading tests; dans Laboratory Guide to the Methods in, Biochemical Genetics par Blau. N, Duran. M, Gison. KM, pp.171-206, 2008. ,
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results, Journal of Inherited Metabolic Disease, vol.34, issue.5, pp.479-494, 2010. ,
DOI : 10.1007/s10545-010-9104-8
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects, Molecular Aspects of Medicine, vol.25, issue.5-6, pp.5-6495, 2004. ,
DOI : 10.1016/j.mam.2004.06.004
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency, The Journal of Pediatrics, vol.98, issue.5, pp.742-746, 1981. ,
DOI : 10.1016/S0022-3476(81)80834-7
Carnitine Palmitoyltransferase 1A Deficiency; dir. dans: Pagon, SourceGeneReviews [Internet], 1993. ,
Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency, Pediatric Research, vol.36, issue.5, pp.582-588, 1994. ,
DOI : 10.1203/00006450-199411000-00007
Disorders of carnitine transport and the carnitine cycle, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.138, issue.2, pp.77-85, 2006. ,
DOI : 10.1002/ajmg.c.30087
Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase II, New England Journal of Medicine, vol.325, issue.26, pp.1862-1864, 1991. ,
DOI : 10.1056/NEJM199112263252607
Implications of impaired ketogenesis in fatty acid oxidation disorders, Prostaglandins, Leukotrienes and Essential Fatty Acids, vol.70, issue.3, pp.293-308, 2004. ,
DOI : 10.1016/j.plefa.2003.06.003
A Deficiency of Carnitine???Acylcarnitine Translocase in the Inner Mitochondrial Membrane, New England Journal of Medicine, vol.327, issue.1, pp.19-23, 1992. ,
DOI : 10.1056/NEJM199207023270104
Fatty acid oxidation disorders: outcome and long-term prognosis, Journal of Inherited Metabolic Disease, vol.37, issue.Suppl, pp.501-506, 2010. ,
DOI : 10.1007/s10545-009-9001-1
A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase, Biochemical and Biophysical Research Communications, vol.191, issue.3, pp.1369-1372, 1993. ,
DOI : 10.1006/bbrc.1993.1368
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1180, issue.3, pp.327-329, 1993. ,
DOI : 10.1016/0925-4439(93)90058-9
Very Long Chain Acyl- Coenzyme A Dehydrogenase Deficiency. Dir, SourceGeneReviews [Internet], 1993. ,
Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations, Mol Genet Metab. Août, vol.76, issue.4, pp.327-334, 2002. ,
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update, Genetics in Medicine, vol.67, issue.4, pp.205-212, 2006. ,
DOI : 10.1097/01.gim.0000204472.25153.8d
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria, Clinica Chimica Acta, vol.70, issue.3, pp.417-425, 1976. ,
DOI : 10.1016/0009-8981(76)90355-7
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population, Journal of Inherited Metabolic Disease, vol.108, issue.Suppl 3, pp.513-520, 2010. ,
DOI : 10.1007/s10545-010-9115-5
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients., Journal of Clinical Investigation, vol.79, issue.5 ,
DOI : 10.1172/JCI112953
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency, Journal of Inherited Metabolic Disease, vol.95, issue.Suppl 3, pp.507-511, 2010. ,
DOI : 10.1007/s10545-010-9080-z
Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation, Pediatric Research, vol.32, issue.1, pp.185-188, 1996. ,
DOI : 10.1203/00006450-199601000-00031
General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either ??- or ??-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover, Pediatric Research, vol.187, issue.2, pp.190-196, 2004. ,
DOI : 10.1203/01.PDR.0000103931.80055.06
SUDDEN INFANT DEATH AND LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE, The Lancet, vol.334, issue.8653, pp.52-53, 1989. ,
DOI : 10.1016/S0140-6736(89)90300-0
Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid ??-oridation, Biochemical and Biophysical Research Communications, vol.188, issue.3 ,
DOI : 10.1016/0006-291X(92)91350-Y
Glutaric aciduria type II: Report on a previously undescribed metabolic disorder, Clinica Chimica Acta, vol.66, issue.2, pp.227-239, 1976. ,
DOI : 10.1016/0009-8981(76)90060-7
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency, Brain, vol.130, issue.8, pp.2045-2054, 2007. ,
DOI : 10.1093/brain/awm135
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting, Journal of Inherited Metabolic Disease, vol.47, issue.Suppl 3, pp.521-526, 2010. ,
DOI : 10.1007/s10545-010-9076-8
Branched-chain organic acidurias, Seminars in Neonatology, vol.7, issue.1, pp.65-74, 2002. ,
DOI : 10.1053/siny.2001.0087
???Classical??? organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry, Journal of Inherited Metabolic Disease, vol.34, issue.2-3, pp.2-3383, 2006. ,
DOI : 10.1007/s10545-006-0278-z
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?, Orphanet Journal of Rare Diseases, vol.3, issue.1, 2008. ,
DOI : 10.1186/1750-1172-3-2
National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary, Clinical Chemistry, vol.55, issue.9, pp.1615-1626, 2009. ,
DOI : 10.1373/clinchem.2009.131300
Diagnosis and management of glutaric aciduria type I ??? revised recommendations, Journal of Inherited Metabolic Disease, vol.37, issue.3, pp.677-694, 2011. ,
DOI : 10.1007/s10545-011-9289-5
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), Journal of Inherited Metabolic Disease, vol.37, issue.1, pp.5-22, 2007. ,
DOI : 10.1007/s10545-006-0451-4
Urine acylcarnitine analysis by ESI???MS/MS: A new tool for the diagnosis of peroxisomal biogenesis disorders, Clinica Chimica Acta, vol.398, issue.1-2, pp.86-89, 2008. ,
DOI : 10.1016/j.cca.2008.08.018
Strategies for the diagnosis of mitochondrial fatty acid ??-oxidation disorders, Clinica Chimica Acta, vol.323, issue.1-2, pp.37-58, 2002. ,
DOI : 10.1016/S0009-8981(02)00182-1
Determination of free and total carnitine with a random-access chemistry analyzer, Clin Chem. Avr, vol.44, issue.4, pp.810-816, 1998. ,
Mass Spectrometry, 2007. ,
DOI : 10.1002/0471238961.1301191913151518.a01.pub2
Introduction to Mass Spectrometry Lippincott Raven; 3ème édition, 1997. ,
Protéomique, Spectrométrie de masse et analyses multiples, 2010. ,
Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments, Ann Biol Clin, vol.62, issue.3, pp.269-277, 2004. ,
Determination of carnitine and acylcarnitines in plasma by high-performance liquid chromatography/electrospray ionization ion trap tandem mass spectrometry, Rapid Communications in Mass Spectrometry, vol.18, issue.11, pp.1233-1238, 2004. ,
DOI : 10.1002/rcm.1470
Rapid measurement of plasma acylcarnitines by liquid chromatography???tandem mass spectrometry without derivatization, Clinica Chimica Acta, vol.358, issue.1-2 ,
DOI : 10.1016/j.cccn.2005.02.011
Effect of acetonitrile concentration on acylcarnitines measurement by tandem mass spectrometry, Biosalud, vol.9, issue.1, pp.9-16, 2010. ,
Acylcarnitine profile analysis, Genetics in Medicine, vol.6, issue.2, pp.151-156, 2008. ,
DOI : 10.1097/GIM.0b013e3181614289
C; Acylcarnitine profile Which method? Diagnostic value, pitfalls ,
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns, Clinical Chemistry, vol.49, issue.11, pp.1797-1817, 2003. ,
DOI : 10.1373/clinchem.2003.022178
Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry, Clin Chim Acta. Mai, vol.411, pp.9-10684, 2010. ,
Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1- OH) using butyl esters, J Inherit Metab Dis, vol.27, p.94, 2004. ,
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme, Journal of Inherited Metabolic Disease, vol.21, issue.6, pp.624-630, 1998. ,
DOI : 10.1023/A:1005424331822
Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis, Journal of Inherited Metabolic Disease, vol.27, issue.5, pp.707-709, 2004. ,
DOI : 10.1023/B:BOLI.0000043024.08450.0c
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation, American Journal of Medical Genetics, vol.220, issue.2, pp.150-155, 2004. ,
DOI : 10.1002/ajmg.a.20573
Postmortem biochemistry, Forensic Science International, vol.165, issue.2-3, pp.165-171, 2007. ,
DOI : 10.1016/j.forsciint.2006.05.023
Three cases of fat oxidation disorders causing sudden unexpected death in infancy that demonstrate the importance of sample timing post mortem, J Inherit Metab Dis, vol.34, p.154, 2011. ,
Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC???MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis, Molecular Genetics and Metabolism, vol.101, issue.1, pp.25-32, 2010. ,
DOI : 10.1016/j.ymgme.2010.05.012