Mitochondrial β-oxidation of saturated fatty acids in humans

Abe, 1993, Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase, Biochim. Biophys. Acta, 1216, 304, 10.1016/0167-4781(93)90160-F

Aksglaede, 2015, Abnormal newborn screening in a healthy infant of a mother with undiagnosed medium-chain acyl-CoA dehydrogenase deficiency, JIMD Rep., 23, 67, 10.1007/8904_2015_428

Amendt, 1987, Short-chain acyl-coenzyme a dehydrogenase deficiency. Clinical and biochemical studies in two patients, J. Clin. Invest., 79, 1303, 10.1172/JCI112953

Andresen, 1993, A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD), Am. J. Hum. Genet., 53, 730

Angelini, 2017, Heterogeneous phenotypes in lipid storage myopathy due to ETFDH gene mutations, 10.1007/8904_2017_27

Aoyama, 1995, Purification of human very-long-chain acyl-coenzyme a dehydrogenase and characterization of its deficiency in seven patients, J. Clin. Invest., 95, 2465, 10.1172/JCI117947

Arnold, 2009, A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency, Mol. Genet. Metab., 96, 85, 10.1016/j.ymgme.2008.09.008

Bar-joseph, 2012, Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia, Hum. Genet., 131, 1805, 10.1007/s00439-012-1207-x

Barycki, 1999, Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism, Biochemistry, 38, 5786, 10.1021/bi9829027

Behin, 2016, Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease, Rev. Neurol. (Paris), 172, 231, 10.1016/j.neurol.2015.11.008

Bennett, 2006, Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase, Mol. Genet. Metab., 89, 74, 10.1016/j.ymgme.2006.04.004

Bezaire, 2006, Identification of fatty acid translocase on human skeletal muscle mitochondrial membranes: essential role in fatty acid oxidation, Am. J. Physiol. Endocrinol. Metab., 290, E509, 10.1152/ajpendo.00312.2005

den Boer, 2003, Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement, J. Pediatr., 142, 684, 10.1067/mpd.2003.231

Bonito, 2016, Insights into medium-chain acyl-CoA dehydrogenase structure by molecular dynamics simulations, Chem. Biol. Drug Des., 88, 281, 10.1111/cbdd.12755

Bonnefont, 2010, Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency, Clin. Pharmacol. Ther., 88, 101, 10.1038/clpt.2010.55

Boomgaarden, 2009, Comparative analyses of disease risk genes belonging to the acyl-CoA synthetase medium-chain (ACSM) family in human liver and cell lines, Biochem. Genet., 47, 739, 10.1007/s10528-009-9273-z

Brown, 2014, Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening, Mol. Genet. Metab., 113, 278, 10.1016/j.ymgme.2014.10.005

Carpenter, 1992, Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria, Biochem. Biophys. Res. Commun., 183, 443, 10.1016/0006-291X(92)90501-B

Catanzano, 2010, The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach, J. Inherit. Metab. Dis., 33, S91, 10.1007/s10545-009-9028-3

Chalmers, 1997, Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death, J. Pediatr., 131, 220, 10.1016/S0022-3476(97)70157-4

Clayton, 2001, Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion, J. Clin. Invest., 108, 457, 10.1172/JCI200111294

Corydon, 1998, Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria, J. Biol. Chem., 273, 13065, 10.1074/jbc.273.21.13065

De Biase, 2017, Diagnosis, treatment, and clinical outcome of patients with mitochondrial trifunctional protein/long-chain 3-Hydroxy acyl-CoA dehydrogenase deficiency, JIMD Rep., 31, 63, 10.1007/8904_2016_558

Diekman, 2016, de Sain-van der Velden M, Wardrop M, et al. altered energetics of exercise explain risk of rhabdomyolysis in very long-chain acyl-CoA dehydrogenase deficiency, PLoS One, 11, 10.1371/journal.pone.0147818

Divry, 1983, Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood, Acta Paediatr. Scand., 72, 943, 10.1111/j.1651-2227.1983.tb09849.x

Djouadi, 2016, Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate, J. Inherit. Metab. Dis., 39, 47, 10.1007/s10545-015-9871-3

Eaton, 1998, Control of mitochondrial beta-oxidation: sensitivity of the trifunctional protein to [NAD+]/[NADH] and [acetyl-CoA]/[CoA], Biochim. Biophys. Acta, 1429, 230, 10.1016/S0167-4838(98)00246-5

Emura, 2003, Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency, Pathol. Int., 53, 775, 10.1046/j.1440-1827.2003.01558.x

Fahnehjelm, 2016, Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function, Acta Paediatr., 105, 1451, 10.1111/apa.13536

Ferdinandusse, 2015, Clinical and biochemical characterization of four patients with mutations in ECHS1, Orphanet J. Rare Dis., 10, 79, 10.1186/s13023-015-0290-1

Fould, 2010, Structural and functional characterization of the recombinant human mitochondrial trifunctional protein, Biochemistry, 49, 8608, 10.1021/bi100742w

Fukao, 2001, The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients, Mol. Genet. Metab., 72, 109, 10.1006/mgme.2000.3113

Ganetzky, 2016, ECHS1 deficiency as a cause of severe neonatal lactic acidosis, JIMD Rep., 30, 33, 10.1007/8904_2016_538

Gargiulo, 1999, Localization of adipocyte long-chain fatty acyl-CoA synthetase at the plasma membrane, J. Lipid Res., 40, 881, 10.1016/S0022-2275(20)32123-4

Geven, 2007, Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency, BJOG, 114, 1028, 10.1111/j.1471-0528.2007.01411.x

Gillingham, 2011, Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant, Mol. Genet. Metab., 104, 261, 10.1016/j.ymgme.2011.06.017

Gillingham, 2013, Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder, Am. J. Physiol. Endocrinol. Metab., 305, E1299, 10.1152/ajpendo.00225.2013

Goodman, 1980, Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein, Pediatr. Res., 14, 12, 10.1203/00006450-198001000-00004

Gramer, 2015, Medium-chain acyl-CoA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening, JIMD Rep., 23, 101, 10.1007/8904_2015_439

Gregersen, 1980, Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II, J. Inherit. Metab. Dis., 3, 67, 10.1007/BF02312527

Grunert, 2015, Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening, BMC Med. Genet., 16, 56, 10.1186/s12881-015-0199-5

Haack, 2015, Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement, Ann. Clin. Transl. Neurol., 2, 492, 10.1002/acn3.189

Haapalainen, 2007, Kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function, Biochemistry, 46, 4305, 10.1021/bi6026192

He, 2007, A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency, Am. J. Hum. Genet., 81, 87, 10.1086/519219

Henriques, 2010, Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency, Biochim. Biophys. Acta, 1802, 1070, 10.1016/j.bbadis.2010.07.015

Hisanaga, 2004, Structural basis of the substrate-specific two-step catalysis of long chain fatty acyl-CoA synthetase dimer, J. Biol. Chem., 279, 31717, 10.1074/jbc.M400100200

Holloway, 2006, Mitochondrial long chain fatty acid oxidation, fatty acid translocase/CD36 content and carnitine palmitoyltransferase I activity in human skeletal muscle during aerobic exercise, J. Physiol., 571, 201, 10.1113/jphysiol.2005.102178

Horowitz, 2000, Effect of endurance training on lipid metabolism in women: a potential role for PPARalpha in the metabolic response to training, Am. J. Physiol. Endocrinol. Metab., 279, E348, 10.1152/ajpendo.2000.279.2.E348

Huidekoper, 2013, Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency, J. Inherit. Metab. Dis., 36, 831, 10.1007/s10545-012-9532-8

Iacobazzi, 2004, Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation, Am. J. Med. Genet. A, 126A, 150, 10.1002/ajmg.a.20573

Isackson, 2006, Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency, Mol. Genet. Metab., 89, 323, 10.1016/j.ymgme.2006.08.004

Izumi, 2011, A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure, Intern. Med., 50, 2663, 10.2169/internalmedicine.50.5172

Jackson, 1995, Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase, Biochem. Biophys. Res. Commun., 214, 247, 10.1006/bbrc.1995.2281

Jones, 2006, Medium-chain fatty acids undergo elongation before beta-oxidation in fibroblasts, Biochem. Biophys. Res. Commun., 346, 193, 10.1016/j.bbrc.2006.05.107

Kanazawa, 1993, Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase, Enzyme Protein, 47, 9, 10.1159/000468650

Karall, 2015, Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with long-chain 3-Hydroxy acyl CoA dehydrogenase deficiency (LCHADD), Orphanet J. Rare Dis., 10, 21, 10.1186/s13023-015-0236-7

Kiema, 2014, The crystal structure of human mitochondrial 3-ketoacyl-CoA thiolase (T1): insight into the reaction mechanism of its thiolase and thioesterase activities, Acta Crystallogr. D Biol. Crystallogr., 70, 3212, 10.1107/S1399004714023827

Kormanik, 2012, Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate, Mol. Genet. Metab., 107, 684, 10.1016/j.ymgme.2012.10.009

Largilliere, 1995, Mitochondrial very long chain acyl-CoA dehydrogenase deficiency–a new disorder of fatty acid oxidation, Arch. Dis. Child. Fetal Neonatal Ed., 73, F103, 10.1136/fn.73.2.F103

van Maldegem, 2006, Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme a dehydrogenase deficiency, JAMA, 296, 943, 10.1001/jama.296.8.943

Malecki, 2015, Human METTL20 is a mitochondrial lysine methyltransferase that targets the beta subunit of electron transfer flavoprotein (ETFbeta) and modulates its activity, J. Biol. Chem., 290, 423, 10.1074/jbc.M114.614115

Mashek, 2004, Revised nomenclature for the mammalian long-chain acyl-CoA synthetase gene family, J. Lipid Res., 45, 1958, 10.1194/jlr.E400002-JLR200

McAndrew, 2008, Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase, J. Biol. Chem., 283, 9435, 10.1074/jbc.M709135200

Melton, 2013, Overexpression of human fatty acid transport protein 2/very long chain acyl-CoA synthetase 1 (FATP2/Acsvl1) reveals distinct patterns of trafficking of exogenous fatty acids, Biochem. Biophys. Res. Commun., 440, 743, 10.1016/j.bbrc.2013.09.137

Merritt, 2014, Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening, Mol. Genet. Metab., 111, 484, 10.1016/j.ymgme.2014.01.009

Miller, 2015, Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States, Mol. Genet. Metab., 116, 139, 10.1016/j.ymgme.2015.08.011

Minkler, 2017, Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHP, Mol. Genet. Metab., 120, 363, 10.1016/j.ymgme.2017.02.006

Moolenaar, 1999, Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study, Clin. Chem., 45, 459, 10.1093/clinchem/45.4.459

Naiki, 2014, Mutations in HADHB, which encodes the beta-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy, Am. J. Med. Genet. A, 164A, 1180, 10.1002/ajmg.a.36434

Nakagawa, 1995, AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity, Proc. Natl. Acad. Sci. U. S. A., 92, 2051, 10.1073/pnas.92.6.2051

North, 1995, Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys, J. Pediatr., 127, 414, 10.1016/S0022-3476(95)70073-0

ORngreen, 2004, Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency, Ann. Neurol., 56, 279, 10.1002/ana.20168

Orngreen, 2005, Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations, Ann. Neurol., 57, 60, 10.1002/ana.20320

Pande, 1993, Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts, J. Clin. Invest., 91, 1247, 10.1172/JCI116288

Pena, 2012, Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience, Genet. Med., 14, 342, 10.1038/gim.2011.9

Peng, 2015, Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review, BMC Neurol., 15, 114, 10.1186/s12883-015-0380-7

Pepin, 2010, Short-chain 3-hydroxyacyl-CoA dehydrogenase is a negative regulator of insulin secretion in response to fuel and non-fuel stimuli in INS832/13 beta-cells, J. Diabetes, 2, 157, 10.1111/j.1753-0407.2010.00076.x

Peters, 2014, ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism, Brain, 137, 2903, 10.1093/brain/awu216

Prasad, 2001, Hepatic carnitine palmitoyl transferase 1 (CPT1 a) deficiency in north american hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program, Mol. Genet. Metab., 73, 55, 10.1006/mgme.2001.3149

Price, 2002, A novel brain-expressed protein related to carnitine palmitoyltransferase I, Genomics, 80, 433, 10.1006/geno.2002.6845

Randall, 2015, Medium-chain acyl-CoA dehydrogenase deficiency in adulthood: a potential diagnosis in a patient with mental status changes suspected of drug toxicity, J. Forensic Sci., 60, 1101, 10.1111/1556-4029.12808

Rhead, 1980, Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia, Proc. Natl. Acad. Sci. U. S. A., 77, 580, 10.1073/pnas.77.1.580

Rinaldi, 2015, Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia, JAMA Neurol., 72, 561, 10.1001/jamaneurol.2014.4769

Robinson, 1979, Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism, J. Pediatr., 95, 228, 10.1016/S0022-3476(79)80656-3

Schaefer, 1997, Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy, J. Neurol. Neurosurg. Psychiatry, 62, 169, 10.1136/jnnp.62.2.169

Scott Schwoerer, 2015, Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency, Mol. Genet. Metab. Rep., 3, 39, 10.1016/j.ymgmr.2015.03.003

Souri, 1998, Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane, FEBS Lett., 426, 187, 10.1016/S0014-5793(98)00343-3

Sperk, 2010, Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening, Mol. Genet. Metab., 101, 205, 10.1016/j.ymgme.2010.07.003

Spiekerkoetter, 2004, Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein, Muscle Nerve, 29, 66, 10.1002/mus.10500

Stanley, 1983, Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels, Pediatr. Res., 17, 877, 10.1203/00006450-198311000-00008

Takken, 2005, Prolonged exercise testing in two children with a mild multiple acyl-CoA-dehydrogenase deficiency, Nutr. Metab. (Lond.), 2, 12, 10.1186/1743-7075-2-12

Tonin, 2016, Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation, BBA Clin., 5, 114, 10.1016/j.bbacli.2016.03.004

Toogood, 2004, Extensive domain motion and electron transfer in the human electron transferring flavoprotein.Medium chain acyl-CoA dehydrogenase complex, J. Biol. Chem., 279, 32904, 10.1074/jbc.M404884200

Touw, 2013, In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes, Orphanet J. Rare Dis., 8, 43, 10.1186/1750-1172-8-43

Turnbull, 1984, Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency, N. Engl. J. Med., 311, 1232, 10.1056/NEJM198411083111906

Vanhove, 1993, Mitochondrial short-chain acyl-CoA dehydrogenase of human liver and kidney can function as an oxidase, Biochem J., 292, 23, 10.1042/bj2920023

Vieira, 2017, Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency associated with Hepatoencephalomyopathy and white matter signal abnormalities on brain MRI, Neuropediatrics, 48, 194, 10.1055/s-0037-1601447

Vilarinho, 2012, Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening, Mol. Genet. Metab., 106, 277, 10.1016/j.ymgme.2012.04.005

Violante, 2010, Carnitine palmitoyltransferase 2: new insights on the substrate specificity and implications for acylcarnitine profiling, Biochim. Biophys. Acta, 1802, 728, 10.1016/j.bbadis.2010.06.002

Violante, 2013, Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient, Biochim. Biophys. Acta, 1831, 1467, 10.1016/j.bbalip.2013.06.007

Violante, 2013, Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines, FASEB J. Off. Publ. Fed. Am. Soc. Exp. Biol., 27, 2039

Vredendaal, 1996, Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence, Biochem. Biophys. Res. Commun., 223, 718, 10.1006/bbrc.1996.0961

Waisbren, 2008, Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms, Mol. Genet. Metab., 95, 39, 10.1016/j.ymgme.2008.06.002

Watmough, 2010, The electron transfer flavoprotein: ubiquinone oxidoreductases, Biochim. Biophys. Acta, 1797, 1910, 10.1016/j.bbabio.2010.10.007

Whitfield, 1996, Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism, Am. J. Perinatol., 13, 131, 10.1055/s-2007-994309

Yamada, 2015, Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion, J. Med. Genet., 52, 691, 10.1136/jmedgenet-2015-103231

Yamazaki, 1996, Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I, Biochim. Biophys. Acta, 1307, 157, 10.1016/0167-4781(96)00069-3

Ylitalo, 2005, Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency, Am. J. Obstet. Gynecol., 192, 2060, 10.1016/j.ajog.2004.11.005