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Record Information
Version4.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2021-04-12 19:31:32 UTC
HMDB IDHMDB0000824
Secondary Accession Numbers
  • HMDB0062514
  • HMDB00824
  • HMDB62514
Metabolite Identification
Common NamePropionylcarnitine
DescriptionPropionylcarnitine is an acylcarnitine. More specifically, it is an propanoic acid ester of carnitine. Acylcarnitines were first discovered more than 70 year ago (PMID: 13825279 ). It is believed that there are more than 1000 types of acylcarnitines in the human body. The general role of acylcarnitines is to transport acyl-groups (organic acids and fatty acids) from the cytoplasm into the mitochondria so that they can be broken down to produce energy.  This process is known as beta-oxidation. According to a recent review [Dambrova et al. 2021, Physiological Reviews], acylcarnitines (ACs) can be classified into 9 different categories depending on the type and size of their acyl-group: 1) short-chain ACs; 2) medium-chain ACs; 3) long-chain ACs; 4) very long-chain ACs; 5) hydroxy ACs; 6) branched chain ACs; 7) unsaturated ACs; 8) dicarboxylic ACs and 9) miscellaneous ACs. Short-chain ACs have acyl-groups with two to five carbons (C2-C5), medium-chain ACs have acyl-groups with six to thirteen carbons (C6-C13), long-chain ACs have acyl-groups with fourteen to twenty once carbons (C14-C21) and very long-chain ACs have acyl groups with more than 22 carbons. Propionylcarnitine is therefore classified as a short chain AC. As a short-chain acylcarnitine propionylcarnitine is a member of the most abundant group of carnitines in the body, comprising more than 50% of all acylcarnitines quantified in tissues and biofluids (PMID: 31920980 ). Some short-chain carnitines have been studied as supplements or treatments for a number of diseases, including neurological disorders and inborn errors of metabolism. In particular propionylcarnitine is elevated in the blood or plasma of individuals with methylmalonic academia/methylmalonyl-CoA mutase deficiency (PMID: 26454439 , PMID: 25750861 , PMID: 31622506 , PMID: 30712249 ), propionic academia/mitochondrial propionyl-CoA carboxylase deficiency (PMID: 31715057 , PMID: 28915261 ), obesity and Type 2 Diabetes Mellitus (PMID: 30186675 ), cobalamin C deficiency (PMID: 25367534 ), chronic heart failure (PMID: 22622056 ), diastolic heart failure (PMID: 26010610 ), and systolic heart failure (PMID: 26010610 ). It is also decreased in the blood or plasma of individuals with familial Mediterranean fever (PMID: 29900937 ) and type 2 diabetes Mellitus (PMID: 19369366 ). It is also decreased in the urine of individuals with obesity (PMID: 26910390 ). Propionylcarnitine is also found to be associated with propionic acidemia, which is an inborn error of metabolism. Carnitine acetyltransferase (CrAT, EC:2.3.1.7) is responsible for the synthesis of all short-chain and short branched-chain acylcarnitines (PMID: 23485643 ). The study of acylcarnitines is an active area of research and it is likely that many novel acylcarnitines will be discovered in the coming years. It is also likely that many novel roles in health and disease will be uncovered. An excellent review of the current state of knowledge for acylcarnitines is available at [Dambrova et al. 2021, Physiological Reviews].
Structure
Data?1614286084
Synonyms
ValueSource
(3R)-3-(Propionyloxy)-4-(trimethylammonio)butanoateChEBI
(R)-3-Carboxy-N,N,N-trimethyl-2-(1-oxopropoxy)-1-propanaminium inner saltChEBI
O-Propanoyl-(R)-carnitineChEBI
O-Propanoyl-carnitineChEBI
O-PropanoylcarnitineChEBI
O-Propinoyl-L-carnitineChEBI
(3R)-3-(Propionyloxy)-4-(trimethylammonio)butanoic acidGenerator
(-)-PropionylcarnitineHMDB
C3-CarnitineHMDB
L-Carnitine propionyl esterHMDB
L-PropionylcarnitineHMDB
Levocarnitine propilHMDB
O-Propanoyl-L-carnitineHMDB
O-Propionyl-L-carnitineHMDB
Propanoyl-L-carnitineHMDB
Propionyl-L-carnitineHMDB
PropionylcarnitineHMDB
Chemical FormulaC10H20NO4
Average Molecular Weight218.272
Monoisotopic Molecular Weight218.138684548
IUPAC Name(3R)-3-(propanoyloxy)-4-(trimethylazaniumyl)butanoate
Traditional NameO-propanoylcarnitine
CAS Registry Number20064-19-1
SMILES
CCC(=O)O[C@H](CC(O)=O)C[N+](C)(C)C
InChI Identifier
InChI=1S/C10H19NO4/c1-5-10(14)15-8(6-9(12)13)7-11(2,3)4/h8H,5-7H2,1-4H3/p+1/t8-/m1/s1
InChI KeyUFAHZIUFPNSHSL-MRVPVSSYSA-O
Chemical Taxonomy
Description belongs to the class of organic compounds known as acyl carnitines. These are organic compounds containing a fatty acid with the carboxylic acid attached to carnitine through an ester bond.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassFatty Acyls
Sub ClassFatty acid esters
Direct ParentAcyl carnitines
Alternative Parents
Substituents
  • Acyl-carnitine
  • Dicarboxylic acid or derivatives
  • Tetraalkylammonium salt
  • Quaternary ammonium salt
  • Carboxylic acid ester
  • Carboxylic acid salt
  • Carboxylic acid derivative
  • Carboxylic acid
  • Organic nitrogen compound
  • Organooxygen compound
  • Organonitrogen compound
  • Organic salt
  • Hydrocarbon derivative
  • Organic oxide
  • Organopnictogen compound
  • Organic oxygen compound
  • Carbonyl group
  • Amine
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect

Health effect:

Disposition

Route of exposure:

Source:

Biological location:

Process

Naturally occurring process:

Role

Industrial application:

Biological role:

Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility0.15 g/LALOGPS
logP-2.3ALOGPS
logP-3.7ChemAxon
logS-3.2ALOGPS
pKa (Strongest Acidic)4.19ChemAxon
pKa (Strongest Basic)-7.1ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count0ChemAxon
Polar Surface Area66.43 ŲChemAxon
Rotatable Bond Count7ChemAxon
Refractivity77.26 m³·mol⁻¹ChemAxon
Polarizability22.68 ųChemAxon
Number of Rings0ChemAxon
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Spectra
Not Available
Biological Properties
Cellular Locations
  • Cytoplasm
  • Extracellular
  • Membrane
  • Mitochondria
  • Peroxisome
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Urine
Tissue Locations
  • Placenta
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.31 +/- 0.15 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.400 +/- 0.021 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.15-0.70 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.24 (0.2-0.3) uMNewborn (0-30 days old)Not Available
Normal
details
BloodDetected and Quantified0.58 (0.47-0.75) uMInfant (0-1 year old)Not Available
Normal
details
BloodDetected and Quantified0.44(0.14) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.34 +/- 0.10 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.564 (0.209-1.159) uMChildren (1-13 years old)BothNormal details
BloodDetected and Quantified0.15-0.70 uMAdult (>18 years old)Both
Normal
details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.018 +/- 0.009 uMAdult (>18 years old)Not SpecifiedNormal details
FecesDetected but not QuantifiedNot QuantifiedChildren (6 - 18 years old)Not SpecifiedNormal details
FecesDetected and Quantified0.27 +/- 0.12 nmol/g wet fecesAdult (>18 years old)Both
Normal
details
FecesDetected and Quantified0.16 +/- 0.06 nmol/g wet fecesAdult (>18 years old)Both
Normal
details
SalivaDetected and Quantified0.068 +/- 0.054 uMAdult (>18 years old)BothNormal
    • Zerihun T. Dame, ...
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Not SpecifiedNormal details
UrineDetected and Quantified86.75 +/- 9.39 umol/mmol creatinineAdolescent (13-18 years old)Both
Normal
details
UrineDetected and Quantified0.07 (0.01-0.20) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified0.01-0.07 umol/mmol creatinineNewborn (0-30 days old)BothNormal
    • López Hernández Y...
details
UrineDetected and Quantified0.03 +/- 0.02 umol/mmol creatinineNewborn (0-30 days old)FemaleNormal
    • López Hernández Y...
details
UrineDetected and Quantified0.03 +/- 0.02 umol/mmol creatinineNewborn (0-30 days old)MaleNormal
    • López Hernández Y...
details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified0.4814 +/- 0.371 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.247 +/- 0.014 uMAdult (>18 years old)BothCeliac disease details
BloodDetected and Quantified0.2075 (0.1802) uMAdult (>18 years old)FemalePregnancy with fetus having congenital heart defect details
BloodDetected and Quantified0.58(0.2) uMAdult (>18 years old)BothHeart failure with preserved ejection fraction details
BloodDetected and Quantified0.63(0.32) uMAdult (>18 years old)BothHeart failure with reduced ejection fraction details
BloodDetected and Quantified0.331 +/- 0.124 uMChildren (1-13 years old)Both
Obesity
    • Metabolomics reve...
details
BloodDetected and Quantified0.384 +/- 0.122 uMChildren (1-13 years old)Both
Obesity
    • Metabolomics reve...
details
FecesDetected but not QuantifiedNot QuantifiedChildren (6 - 18 years old)Not SpecifiedCrohns disease details
FecesDetected but not QuantifiedNot QuantifiedChildren (6 - 18 years old)Not SpecifiedUlcerative colitis details
FecesDetected but not QuantifiedNot QuantifiedChildren (6 - 18 years old)Not SpecifiedUnclassified IBD details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleAttachment loss  details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleMissing teeth details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MalePeriodontal Probing Depth details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleProsthesis/Missing teeth details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleTooth Decay details
UrineDetected and Quantified142.23 +/- 13.71 umol/mmol creatinineAdolescent (13-18 years old)Both
Obese
details
UrineDetected and Quantified2.09 umol/mmol creatinineAdult (>18 years old)Not Specified
Propionic acidemia
details
UrineDetected and Quantified0.3638 +/- 0.6673 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified0.218 +/- 0.2137 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Gastroesophageal reflux disease
    • Mordechai, Hien, ...
details
Associated Disorders and Diseases
Disease References
Celiac disease
  1. Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed:16425363 ]
Crohn's disease
  1. Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158. [PubMed:27609529 ]
Ulcerative colitis
  1. Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158. [PubMed:27609529 ]
Attachment loss
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Missing teeth
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Periodontal Probing Depth
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Prosthesis/Missing teeth
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Tooth Decay
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Eosinophilic esophagitis
  1. (). Mordechai, Hien, and David S. Wishart. .
Propionic acidemia
  1. Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. [PubMed:28853722 ]
Obesity
  1. Cho K, Moon JS, Kang JH, Jang HB, Lee HJ, Park SI, Yu KS, Cho JY: Combined untargeted and targeted metabolomic profiling reveals urinary biomarkers for discriminating obese from normal-weight adolescents. Pediatr Obes. 2017 Apr;12(2):93-101. doi: 10.1111/ijpo.12114. Epub 2016 Feb 22. [PubMed:26910390 ]
  2. Simone Wahl, Christina Holzapfel, Zhonghao Yu, Michaela Breier, Ivan Kondofersky, Christiane Fuchs, Paula Singmann, Cornelia Prehn, Jerzy Adamski, Harald Grallert, Thomas Illig, Rui Wang-Sattler, Thomas Reinehr (2013). Metabolomics reveals determinants of weight loss during lifestyle intervention in obese children. Metabolomics.
Associated OMIM IDs
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022268
KNApSAcK IDNot Available
Chemspider ID164090
KEGG Compound IDC03017
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN IDNot Available
PubChem Compound188824
PDB IDNot Available
ChEBI ID53210
Food Biomarker OntologyNot Available
VMH IDPCRN
MarkerDB IDMDB00000262
References
Synthesis ReferenceNot Available
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Leonard JV, Vijayaraghavan S, Walter JH: The impact of screening for propionic and methylmalonic acidaemia. Eur J Pediatr. 2003 Dec;162 Suppl 1:S21-4. Epub 2003 Oct 30. [PubMed:14586648 ]
  2. Penn D, Schmidt-Sommerfeld E, Jakobs C, Bieber LL: Amniotic fluid propionylcarnitine in methylmalonic aciduria. J Inherit Metab Dis. 1987;10(4):376-82. [PubMed:3126357 ]
  3. Di Donato S, Rimoldi M, Garavaglia B, Uziel G: Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta. 1984 May 16;139(1):13-21. [PubMed:6723070 ]
  4. Bertelli A, Conte A, Ronca G: L-propionyl carnitine protects erythrocytes and low density lipoproteins against peroxidation. Drugs Exp Clin Res. 1994;20(5):191-7. [PubMed:7875055 ]
  5. Vermeulen RC, Scholte HR: Exploratory open label, randomized study of acetyl- and propionylcarnitine in chronic fatigue syndrome. Psychosom Med. 2004 Mar-Apr;66(2):276-82. [PubMed:15039515 ]
  6. Golan R, Soffer Y, Katz S, Weissenberg R, Wasserzug O, Lewin LM: Carnitine and short-chain acylcarnitines in the lumen of the human male reproductive tract. Int J Androl. 1983 Aug;6(4):349-57. [PubMed:6618689 ]
  7. Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C: Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation. Mol Genet Metab. 1998 Sep;65(1):35-43. [PubMed:9787093 ]
  8. Vernez L, Wenk M, Krahenbuhl S: Determination of carnitine and acylcarnitines in plasma by high-performance liquid chromatography/electrospray ionization ion trap tandem mass spectrometry. Rapid Commun Mass Spectrom. 2004;18(11):1233-8. [PubMed:15164354 ]
  9. Matsumoto K, Takahashi M, Takiyama N, Misaki H, Matsuo N, Murano S, Yuki H: Enzyme reactor for urinary acylcarnitines assay by reversed-phase high-performance liquid chromatography. Clin Chim Acta. 1993 Jul 16;216(1-2):135-43. [PubMed:8222264 ]
  10. Van Hove JL, Chace DH, Kahler SG, Millington DS: Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis. 1993;16(2):361-7. [PubMed:8411998 ]
  11. Ferrara F, Bertelli A, Falchi M: Evaluation of carnitine, acetylcarnitine and isovalerylcarnitine on immune function and apoptosis. Drugs Exp Clin Res. 2005;31(3):109-14. [PubMed:16033249 ]
  12. Lucke T, Perez-Cerda C, Baumgartner M, Fowler B, Sander S, Sasse M, Scholl S, Ugarte M, Das AM: Propionic acidemia: unusual course with late onset and fatal outcome. Metabolism. 2004 Jun;53(6):809-10. [PubMed:15164333 ]
  13. Simons K, Toomre D: Lipid rafts and signal transduction. Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9. [PubMed:11413487 ]
  14. Watson AD: Thematic review series: systems biology approaches to metabolic and cardiovascular disorders. Lipidomics: a global approach to lipid analysis in biological systems. J Lipid Res. 2006 Oct;47(10):2101-11. Epub 2006 Aug 10. [PubMed:16902246 ]
  15. Sethi JK, Vidal-Puig AJ: Thematic review series: adipocyte biology. Adipose tissue function and plasticity orchestrate nutritional adaptation. J Lipid Res. 2007 Jun;48(6):1253-62. Epub 2007 Mar 20. [PubMed:17374880 ]
  16. Lingwood D, Simons K: Lipid rafts as a membrane-organizing principle. Science. 2010 Jan 1;327(5961):46-50. doi: 10.1126/science.1174621. [PubMed:20044567 ]
  17. Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043. [PubMed:32033212 ]
  18. FRITZ IB: Action of carnitine on long chain fatty acid oxidation by liver. Am J Physiol. 1959 Aug;197:297-304. doi: 10.1152/ajplegacy.1959.197.2.297. [PubMed:13825279 ]
  19. Makarova E, Makrecka-Kuka M, Vilks K, Volska K, Sevostjanovs E, Grinberga S, Zarkova-Malkova O, Dambrova M, Liepinsh E: Decreases in Circulating Concentrations of Long-Chain Acylcarnitines and Free Fatty Acids During the Glucose Tolerance Test Represent Tissue-Specific Insulin Sensitivity. Front Endocrinol (Lausanne). 2019 Dec 17;10:870. doi: 10.3389/fendo.2019.00870. eCollection 2019. [PubMed:31920980 ]
  20. Han LS, Huang Z, Han F, Ye J, Qiu WJ, Zhang HW, Wang Y, Gong ZW, Gu XF: Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. World J Pediatr. 2015 Nov;11(4):358-65. doi: 10.1007/s12519-015-0043-1. Epub 2015 Oct 11. [PubMed:26454439 ]
  21. Ghoraba DA, Mohammed MM, Zaki OK: Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. Meta Gene. 2015 Feb 25;3:71-88. doi: 10.1016/j.mgene.2014.02.001. eCollection 2015 Feb. [PubMed:25750861 ]
  22. Kang L, Liu Y, Shen M, Liu Y, He R, Song J, Jin Y, Li M, Zhang Y, Dong H, Liu X, Yan H, Qin J, Zheng H, Chen Y, Li D, Wei H, Zhang H, Sun L, Zhu Z, Liang D, Yang Y: A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. J Inherit Metab Dis. 2020 May;43(3):409-423. doi: 10.1002/jimd.12183. Epub 2019 Nov 26. [PubMed:31622506 ]
  23. Keyfi F, Abbaszadegan MR, Sankian M, Rolfs A, Orolicki S, Pournasrollah M, Alijanpour M, Varasteh A: Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. Mol Biol Rep. 2019 Feb;46(1):271-285. doi: 10.1007/s11033-018-4469-0. Epub 2019 Feb 2. [PubMed:30712249 ]
  24. Curnock R, Heaton ND, Vilca-Melendez H, Dhawan A, Hadzic N, Vara R: Liver Transplantation in Children With Propionic Acidemia: Medium-Term Outcomes. Liver Transpl. 2020 Mar;26(3):419-430. doi: 10.1002/lt.25679. Epub 2020 Feb 3. [PubMed:31715057 ]
  25. Monostori P, Klinke G, Richter S, Barath A, Fingerhut R, Baumgartner MR, Kolker S, Hoffmann GF, Gramer G, Okun JG: Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. PLoS One. 2017 Sep 15;12(9):e0184897. doi: 10.1371/journal.pone.0184897. eCollection 2017. [PubMed:28915261 ]
  26. Libert DM, Nowacki AS, Natowicz MR: Metabolomic analysis of obesity, metabolic syndrome, and type 2 diabetes: amino acid and acylcarnitine levels change along a spectrum of metabolic wellness. PeerJ. 2018 Aug 31;6:e5410. doi: 10.7717/peerj.5410. eCollection 2018. [PubMed:30186675 ]
  27. Rahmandar MH, Bawcom A, Romano ME, Hamid R: Cobalamin C deficiency in an adolescent with altered mental status and anorexia. Pediatrics. 2014 Dec;134(6):e1709-14. doi: 10.1542/peds.2013-2711. Epub 2014 Nov 3. [PubMed:25367534 ]
  28. Ueland T, Svardal A, Oie E, Askevold ET, Nymoen SH, Bjorndal B, Dahl CP, Gullestad L, Berge RK, Aukrust P: Disturbed carnitine regulation in chronic heart failure--increased plasma levels of palmitoyl-carnitine are associated with poor prognosis. Int J Cardiol. 2013 Sep 1;167(5):1892-9. doi: 10.1016/j.ijcard.2012.04.150. Epub 2012 May 22. [PubMed:22622056 ]
  29. Zordoky BN, Sung MM, Ezekowitz J, Mandal R, Han B, Bjorndahl TC, Bouatra S, Anderson T, Oudit GY, Wishart DS, Dyck JR: Metabolomic fingerprint of heart failure with preserved ejection fraction. PLoS One. 2015 May 26;10(5):e0124844. doi: 10.1371/journal.pone.0124844. eCollection 2015. [PubMed:26010610 ]
  30. Kiykim E, Aktuglu Zeybek AC, Barut K, Zubarioglu T, Cansever MS, Alsancak S, Kasapcopur O: Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever. Arch Rheumatol. 2016 Mar 10;31(2):133-138. doi: 10.5606/ArchRheumatol.2016.5696. eCollection 2016 Jun. [PubMed:29900937 ]
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Enzymes

General function:
Involved in acyltransferase activity
Specific function:
Carnitine acetylase is specific for short chain fatty acids. Carnitine acetylase seems to affect the flux through the pyruvate dehydrogenase complex. It may be involved as well in the transport of acetyl-CoA into mitochondria.
Gene Name:
CRAT
Uniprot ID:
P43155
Molecular weight:
70875.095
General function:
Involved in transporter activity
Specific function:
Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway.
Gene Name:
SLC25A20
Uniprot ID:
O43772
Molecular weight:
32943.46