D‐2‐hydroxyglutaric aciduria: Case report and biochemical studies
Abstract
A patient with protein‐losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria, d ‐2‐hydroxyglutaric aciduria. The observations made are consistent with an inherited metabolic disorder in the catabolism of 5‐aminolaevulinate possibly due to deficient activity of a specific d ‐2‐hydroxyglutarate dehydrogenase.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Almost all IDH1/2 mutations occur in a few unique locations in the active site, resulting in neomorphic activity converting α-KG to D-2-HG.
“Remarkably, almost all IDH1/2 mutations occur in a few unique locations in the active site of the enzymes, which results in the acquirement of a neomorphic enzymatic activity converting α-KG to the oncometabolite D-2-HG118-120.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [120]
In IDH1/2-mutant gliomas, D-2-HG accumulates to levels up to 35 mM.
“In IDH1/2-mutant gliomas, D-2-HG has been reported to accumulate to levels up to 35 mM, as such, D-2-HG could inhibit α-KG-dependent dioxygenases to affect alternative cellular signaling pathways120.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [120]
Cites
Burks, A. W., James, J. M., & Eigenmann, P. (1951) · Cited by 2,573 · see citing works
Gerwig, G. J., Kamerling, J. P., & Vliegenthart, J. F. G. (1978) · Carbohydrate Research · doi:10.1016/s0008-6215(00)80881-2 · Cited by 862 · see citing works
Self-citationL‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?
Duran, M., Kamerling, J. P., Bakker, H. D., van Gennip, A. H., & Wadman, S. K. (1980) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02312543 · Cited by 226 · see citing works
Self-citationShemin, D., Russell, C. S., & Abramsky, T. (1955) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)65983-6 · Cited by 183 · see citing works
Isolation and properties of malic dehydrogenase from ox-heart mitochondria
Davies, D. D., & Kun, É. (1957) · Biochemical Journal · doi:10.1042/bj0660307 · Cited by 146 · see citing works
The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine
CHALMERS, R. A., & Watts, R. W. E. (1972) · The Analyst · doi:10.1039/an9729700958 · Cited by 120 · see citing works
Self-citationUrinary organic acids in man. I. Normal patterns.
Lawson, A. M., Chalmers, R. A., & Watts, R. W. E. (1976) · Clinical Chemistry · doi:10.1093/clinchem/22.8.1283 · Cited by 85 · see citing works
Self-citationThe oxidation of d -α-hydroxy acids in animal tissues
Tubbs, P., & Greville, G. D. (1961) · Biochemical Journal · doi:10.1042/bj0810104 · Cited by 82 · see citing works
Nemeth, A. M., Russell, C. S., & Shemin, D. (1957) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)70627-3 · Cited by 78 · see citing works
Kamerling, J. P., Gerwig, G. J., Vliegenthart, J. F. G., Durán, M., Ketting, D., & Wadman, S. K. (1977) · Journal of Chromatography B Biomedical Sciences and Applications · doi:10.1016/s0378-4347(00)81817-4 · Cited by 59 · see citing works
Self-citationThe oxidation of l(−)α-hydroxyglutaric acid in animal tissues
Weil‐Malherbe, H. (1937) · Biochemical Journal · doi:10.1042/bj0312080 · Cited by 43 · see citing works
Enzymic Studies on the Metabolism of Glutarate in Pseudomonas
Numa, S., Ishimura, Y., Nakazawa, T., Okazaki, T., & Hayaishi, O. (1964) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)91223-8 · Cited by 41 · see citing works
Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency
Biervliet, J. P. G. M. V., Bruinvis, L., van der Heiden, C., Ketting, D., Wadman, S. K., Willemse, J., & Monnens, L. A. H. (1977) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1977.tb08376.x · Cited by 40 · see citing works
Paediatric gastrointestinal allergy
Freier, S. (1973) · Clinical & Experimental Allergy · doi:10.1111/j.1365-2222.1973.tb03064.x · Cited by 37 · see citing works
γδ-Dioxovalerate as a substrate for the glyoxalase enzyme system
Jerzykowski, T., Winter, R., & Matuszewski, W. (1973) · Biochemical Journal · doi:10.1042/bj1350713 · Cited by 35 · see citing works
Metabolism of 2-amino-5-hydroxyadipic acid in the rat
Lindahl, G., Lindstedt, G., & Lindstedt, S. (1967) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(67)90463-8 · Cited by 32 · see citing works
CHALMERS, R. A., Lawson, A. M., & Borud, O. (1977) · Clinica Chimica Acta · doi:10.1016/0009-8981(77)90018-3 · Cited by 24 · see citing works
Self-citationCHALMERS, R. A., Ryman, B. E., & Watts, R. W. E. (1978) · Acta Paediatrica · doi:10.1111/j.1651-2227.1978.tb16303.x · Cited by 23 · see citing works
Self-citationα-Hydroxyglutarate Oxidoreductase of Pseudomonas putida
Reitz, M. S., & Rodwell, V. W. (1969) · Journal of Bacteriology · doi:10.1128/jb.100.2.708-714.1969 · Cited by 19 · see citing works
Metabolism of Hydroxylysine by Rats
Polan, C. E., Smith, W. G., Ng, C. Y., Hammerstedt, R. H., & Henderson, L. M. (1967) · Journal of Nutrition · doi:10.1093/jn/91.2.143 · Cited by 19 · see citing works
Allergic Diseases: Diagnosis and Management
Henderson, L. (1973) · Archives of Dermatology · doi:10.1001/archderm.1973.01620200083033 · Cited by 16 · see citing works
Healy, M. J. R., CHALMERS, R. A., & Watts, R. W. E. (1973) · Journal of Chromatography A · doi:10.1016/s0021-9673(01)91737-6 · Cited by 16 · see citing works
Self-citationKopchick, J. J., & Hartline, R. A. (1979) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)50753-5 · Cited by 15 · see citing works
Hydroxylysine Metabolism in Rats, Mice, and Chickens
Hiles, R. A., Willett, C. J., & Henderson, L. M. (1972) · Journal of Nutrition · doi:10.1093/jn/102.2.195 · Cited by 13 · see citing works
Degradation of 5-hydroxylysine in the rat and in the perfused liver
Hammerstedt, R. H., Swan, P. B., & Henderson, L. M. (1968) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(68)90028-3 · Cited by 9 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
IDH1andIDH2Mutations in Tumorigenesis: Mechanistic Insights and Clinical Perspectives
Yang, H., Ye, D., Guan, K., & Xiong, Y. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-12-1773 · Cited by 459 · see citing works
Coupling Krebs cycle metabolites to signalling in immunity and cancer
Ryan, D. G., Murphy, M. P., Frezza, C., Prag, H. A., Chouchani, E. T., O’Neill, L. A., & Mills, E. L. (2018) · Nature Metabolism · doi:10.1038/s42255-018-0014-7 · Cited by 398 · see citing works
Oldham, W. M., Clish, C. B., Yang, Y., & Loscalzo, J. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.06.021 · Cited by 364 · see citing works
“Two enantiomers of 2HG, L and D, have been associated with separate, rare inborn errors of metabolism resulting in increased urinary excretion of 2HG linked to neurological deficits in children (Chalmers et al., 1980; Duran et al., 1980; Kranendijk et al., 2012).”
Cancer-associated IDH mutations: biomarker and therapeutic opportunities
Yen, K. E., Bittinger, M. A., Su, S. M., & Fantin, V. R. (2010) · Oncogene · doi:10.1038/onc.2010.444 · Cited by 296 · see citing works
Progress in understanding 2‐hydroxyglutaric acidurias
Kranendijk, M., Struys, E. A., Salomons, G. S., Van der Knaap, M. S., & Jakobs, C. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9462-5 · Cited by 292 · see citing works
Metabolism, Activity, and Targeting of D- and L-2-Hydroxyglutarates
Ye, D., Guan, K.-L., & Xiong, Y. (2018) · Trends in Cancer · doi:10.1016/j.trecan.2017.12.005 · Cited by 242 · see citing works
L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?
Duran, M., Kamerling, J. P., Bakker, H. D., van Gennip, A. H., & Wadman, S. K. (1980) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02312543 · Cited by 226 · see citing works
Self-citationDang, L., & Su, S.-S. M. (2017) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-061516-044732 · Cited by 204 · see citing works
Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria
Struys, E. A., Salomons, G. S., Achouri, Y., Van Schaftingen, E., Grosso, S., Craigen, W. J., Verhoeven, N. M., & Jakobs, C. (2005) · The American Journal of Human Genetics · doi:10.1086/427890 · Cited by 172 · see citing works
What do we know about IDH1/2 mutations so far, and how do we use it?
Horbinski, C. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1106-9 · Cited by 163 · see citing works
Struys, E. A., Jansen, E. E. W., Verhoeven‐Duif, N. M., & Jakobs, C. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2004.033399 · Cited by 147 · see citing works
Kölker, S., Pawlak, V., Ahlemeyer, B., Okun, J. G., Hörster, F., Mayatepek, E., Krieglstein, J., Hoffmann, G. F., & Köhr, G. (2002) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.2002.02055.x · Cited by 133 · see citing works
2-Hydroxyglutarate in Cancer Cells
Ježek, P. (2020) · Antioxidants & Redox Signaling · doi:10.1089/ars.2019.7902 · Cited by 130 · see citing works
Zhao, G., & Winkler, M. E. (1996) · Journal of Bacteriology · doi:10.1128/jb.178.1.232-239.1996 · Cited by 129 · see citing works
Identification of a dehydrogenase acting on D -2-hydroxyglutarate
Achouri, Y., NOËL, G., Vertommen, D., Rider, M. H., Veiga‐da‐Cunha, M., & SCHAFTINGEN, E. V. (2004) · Biochemical Journal · doi:10.1042/bj20031933 · Cited by 129 · see citing works
Gibson, K. M., ten Brink, H. J., Schor, D. S. M., Kok, R. M., Bootsma, A. H., Hoffmann, G. F., & Jakobs, C. (1993) · Pediatric Research · doi:10.1203/00006450-199309000-00007 · Cited by 121 · see citing works
D‐2‐hydroxyglutaric acid induces oxidative stress in cerebral cortex of young rats
Latini, A., Scussiato, K., Rosa, R. B., Llesuy, S., Belló‐Klein, A., Dutra‐Filho, C. S., & Wajner, M. (2003) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.2003.02639.x · Cited by 112 · see citing works
Niwa, T. (1986) · Journal of Chromatography B Biomedical Sciences and Applications · doi:10.1016/s0378-4347(00)80688-x · Cited by 97 · see citing works
D ‐2‐Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect
Struys, E. A. (2006) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-006-0317-9 · Cited by 89 · see citing works
D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in micePreprint
Akbay, E. A., Moslehi, J. J., Christensen, C. L., Saha, S. K., Tchaicha, J. H., Ramkissoon, S. H., Stewart, K. M., Carretero, J., Kikuchi, E., Zhang, H., et al. (2014) · Genes & Development · doi:10.1101/gad.231233.113 · Cited by 89 · see citing works
da Silva, C. G., Ribeiro, C. A. J., Leipnitz, G., Dutra‐Filho, C. S., Wyse, Â. T. D. S., Wannmacher, C. M. D., Sarkis, J. J. F., Jakobs, C., & Wajner, M. (2002) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(01)00088-6 · Cited by 87 · see citing works
D‐2‐Hydroxyglutaric aciduria: Further clinical delineation
van der Knaap, M. S., Jakobs, C., Hoffmann, G. F., Durán, M., Muntau, A. C., Schweitzer, S., Kelley, R. I., Parrot-Roulaud, F., Amiel, J., de Lonlay, P., et al. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005548005393 · Cited by 87 · see citing works
Cheng, Q.-Y., Xiong, J., Huang, W., Ma, Q., Ci, W., Feng, Y., & Yuan, B. (2015) · Scientific Reports · doi:10.1038/srep15217 · Cited by 84 · see citing works
Barbot, C., Fineza, I., Diogo, L. M., Maria, M., Melo, J., ̃es, A. G., Pires, M. M., Cardoso, M. L., & Vilarinho, L. (1997) · Brain and Development · doi:10.1016/s0387-7604(97)00574-3 · Cited by 86 · see citing works
Mitochondrial energy metabolism is markedly impaired by d-2-hydroxyglutaric acid in rat tissues
Latini, A., da Silva, C. G., Ferreira, G. C., Schuck, P. F., Scussiato, K., Sarkis, J. J., Dutra Filho, C. S., Wyse, A. T. S., Wannmacher, C. M. D., & Wajner, M. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.05.002 · Cited by 88 · see citing works
D-2-Hydroxyglutarate in Glioma Biology
Chou, F.-J., Liu, Y., Lang, F., & Yang, C. (2021) · Cells · doi:10.3390/cells10092345 · Cited by 83 · see citing works
Becker‐Kettern, J., Paczia, N., Conrotte, J., Kay, D. P., Guignard, C., Jung, P. P., & Linster, C. L. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.704494 · Cited by 75 · see citing works
Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome
Napoli, E., Tassone, F., Wong, S., Angkustsiri, K., Simon, T. J., Song, G., & Giulivi, C. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.672360 · Cited by 68 · see citing works
Nyhan, W. L., Shelton, G. D., Jakobs, C., Holmes, B., Bowe, C. M., Curry, C. J., Vance, C., Durán, M., & Sweetman, L. (1995) · Journal of Child Neurology · doi:10.1177/088307389501000216 · Cited by 68 · see citing works
Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations
Goodman, S. I., Stene, D. O., McCabe, E. R. B., Norenberg, M. D., Shikes, R. H., Stumpf, D. A., & Blackburn, G. K. (1982) · The Journal of Pediatrics · doi:10.1016/s0022-3476(82)80525-8 · Cited by 64 · see citing works
Enzymatic assay for quantitative analysis of (d)-2-hydroxyglutarate
Balß, J., Pusch, S., Beck, A.-C., Herold‐Mende, C. C., Krämer, A., Thiede, C., Buckel, W., Langhans, C., Okun, J. G., & von Deimling, A. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1060-y · Cited by 63 · see citing works
IDH Mutations in Tumorigenesis and Their Potential Role As Novel Therapeutic Targets
Krell, D., Mulholland, P. J., Frampton, A. E., Krell, J., Stebbing, J., & Bardella, C. (2013) · Future Oncology · doi:10.2217/fon.13.143 · Cited by 62 · see citing works
Achouri, Y., Noël, G., & SCHAFTINGEN, E. V. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.11.111 · Cited by 58 · see citing works
Ravasz, D., Kacsó, G., Fodor, V., Horvath, K., Ádám-Vizi, V., & Chinopoulos, C. (2017) · Neurochemistry International · doi:10.1016/j.neuint.2017.03.008 · Cited by 52 · see citing works
Screening for organic acidurias and amino acidopathies in newborns and children
CHALMERS, R. A., Purkiss, P., Watts, R. W. E., & Lawson, A. M. (1979) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02312520 · Cited by 58 · see citing works
Self-citationRashed, M. S., Al‐Amoudi, M., & Aboul-Enein, H. Y. (2000) · Biomedical Chromatography · doi:10.1002/1099-0801(200008)14:5 · Cited by 53 · see citing works
Majd, H., King, M. S., Smith, A. C., & Kunji, E. R. S. (2017) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2017.10.002 · Cited by 53 · see citing works
Inhibition of creatine kinase activity from rat cerebral cortex by -2-hydroxyglutaric acid in vitro
da-Silva, C. A., Bueno, A. R. F., Schuck, P. F., Leipnitz, G., Ribeiro, C. A. J., ROSA, R., Dutra‐Filho, C. S., Wyse, Â. T. D. S., Wannmacher, C. M. D., & Wajner, M. (2003) · Neurochemistry International · doi:10.1016/s0197-0186(03)00098-6 · Cited by 52 · see citing works
Glioma-derived mutations in IDH: From mechanism to potential therapy
Fu, Y., Huang, R., Du, J., Yang, R., An, N., & Liang, A. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.05.115 · Cited by 51 · see citing works
Kumar, D. T., Emerald, L. J., Doss, C. G. P., Sneha, P., Ramamoorthy, S., Walter, C. E. J., & Zayed, H. (2018) · Metabolic Brain Disease · doi:10.1007/s11011-018-0278-3 · Cited by 48 · see citing works
Cardiac Complications of Propionic and Other Inherited Organic Acidemias
Park, K. C., Krywawych, S., Richard, E., Desviat, L. R., & Swietach, P. (2020) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2020.617451 · Cited by 47 · see citing works
Enantioselective metabolomics by liquid chromatography-mass spectrometry
Calderón, C., & Lämmerhofer, M. (2021) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2021.114430 · Cited by 48 · see citing works
Gibson, K. M., Craigen, W. J., Herman, G. E., & Jakobs, C. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711664 · Cited by 46 · see citing works
1H and 13C NMR study of 2‐hydroxyglutaric acid and its lactone
Bal, D., & Gryff‐Keller, A. (2002) · Magnetic Resonance in Chemistry · doi:10.1002/mrc.1053 · Cited by 45 · see citing works
Mitochondrial 2-hydroxyglutarate metabolism
Engqvist, M. K. M., Eßer, C., Maier, A., Lercher, M. J., & Maurino, V. G. (2014) · Mitochondrion · doi:10.1016/j.mito.2014.02.009 · Cited by 41 · see citing works
Reductive carboxylation and 2-hydroxyglutarate formation by wild-type IDH2 in breast carcinoma cells
Smolková, K., Dvořák, A., Zelenka, J., Vı́tek, L., & Ježek, P. (2015) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2015.05.012 · Cited by 39 · see citing works
Struys, E. A., Verhoeven‐Duif, N. M., Brunengraber, H., & Jakobs, C. (2003) · FEBS Letters · doi:10.1016/s0014-5793(03)01459-5 · Cited by 40 · see citing works
Poinsignon, V., Mercier, L., Nakabayashi, K., David, M. D., Lalli, A., Penard‐Lacronique, V., Quivoron, C., Saada, V., de Botton, S., Broutin, S., et al. (2016) · Journal of Chromatography B · doi:10.1016/j.jchromb.2016.04.030 · Cited by 39 · see citing works
l -2-Hydroxyglutaric aciduria: two Japanese adult cases in one family
Fujitake, J., Ishikawa, Y., Fujii, H., Nishimura, K., Hayakawa, K., Inoue, F., Terada, N., Okochi, M., & Tatsuoka, Y. (1999) · Journal of Neurology · doi:10.1007/s004150050367 · Cited by 39 · see citing works
d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction
Craigen, W. J., Jakobs, C., Sekul, E. A., Levy, M. L., Gibson, K. M., Butler, I. J., & Herman, G. E. (1994) · Pediatric Neurology · doi:10.1016/0887-8994(94)90067-1 · Cited by 38 · see citing works
da Silva, C. G., Bueno, A. R. F., Schuck, P. F., Leipnitz, G., Ribeiro, C. A. J., Wannmacher, C. M. D., Wyse, Â. T. D. S., & Wajner, M. (2003) · International Journal of Developmental Neuroscience · doi:10.1016/s0736-5748(03)00035-2 · Cited by 36 · see citing works
Kamerling, J. P., Durán, M., Gerwig, G. J., Ketting, D., Bruinvis, L., Vliegenthart, J. F. G., & Wadman, S. K. (1981) · Journal of Chromatography B Biomedical Sciences and Applications · doi:10.1016/s0378-4347(00)81061-0 · Cited by 35 · see citing works
Self-citationCalderón, C., Horak, J., & Lämmerhofer, M. (2016) · Journal of Chromatography A · doi:10.1016/j.chroma.2016.05.042 · Cited by 32 · see citing works
Ding, X., Lin, S., Weng, H., & Liang, J. (2018) · Journal of Separation Science · doi:10.1002/jssc.201701555 · Cited by 33 · see citing works
Niehaus, T. D., & Hillmann, K. B. (2020) · FEBS Journal · doi:10.1111/febs.15284 · Cited by 33 · see citing works
Mutations in phenotypically mild D ‐2‐hydroxyglutaric aciduria
Struys, E. A., Korman, S. H., Salomons, G. S., Darmin, P. S., Achouri, Y., SCHAFTINGEN, E. V., Verhoeven‐Duif, N. M., & Jakobs, C. (2005) · Annals of Neurology · doi:10.1002/ana.20559 · Cited by 32 · see citing works
Rodrigues, D. G. B., Coelho, D. D. M., Sitta, Â., Jacques, C. E. D., Hauschild, T. C., Manfredini, V., Bakkali, A., Struys, E. A., Jakobs, C., Wajner, M., et al. (2017) · Toxicology in Vitro · doi:10.1016/j.tiv.2017.04.006 · Cited by 31 · see citing works
l ‐2‐Hydroxyglutaric aciduria: Two further cases
Divry, P., Jakobs, C., Vianey‐Saban, C., Gibson, K. M., Michelakakis, H., Papadimitriou, A., Divari, R., Chabrol, B., Cournelle, M., & Livet, M.-O. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711666 · Cited by 31 · see citing works
Gomez‐Gómez, À., Soldevila, A., Pizarro, N., Andreu-Férnández, V., & Pozo, Ó. J. (2018) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2018.10.055 · Cited by 30 · see citing works
Gomez‐Gómez, À., Olesti, E., Montero-San-Martín, B., Soldevila, A., Deschamps, T., Pizarro, N., de la Torre, R., & Pozo, Ó. J. (2021) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2021.114450 · Cited by 30 · see citing works
Jansen, G. A., & Wanders, R. J. A. (1993) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(93)90121-g · Cited by 30 · see citing works
D‐2‐Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings
Wajner, M., Vargas, C. R., Funayama, C. A. R., Fernandez, A., Elias, M. Z., Goodman, S. I., Jakobs, C., & van der Knaap, M. S. (2002) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1015165212965 · Cited by 29 · see citing works
Baker, N. S., Sarnat, H. B., Jack, R. M., Patterson, K., Shaw, D., & Herndon, S. (1997) · Journal of Child Neurology · doi:10.1177/088307389701200105 · Cited by 29 · see citing works
Quantification of 2-Hydroxyglutarate Enantiomers by Liquid Chromatography-mass Spectrometry
Oldham, W. M., & Loscalzo, J. (2016) · BIO-PROTOCOL · doi:10.21769/bioprotoc.1908 · Cited by 26 · see citing works
Calderón, C., & Lämmerhofer, M. (2017) · Journal of Chromatography A · doi:10.1016/j.chroma.2017.01.060 · Cited by 28 · see citing works
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis
Talkhani, I. S., Saklatvala, J., & Dwyer, J. (2000) · Skeletal Radiology · doi:10.1007/s002560050611 · Cited by 27 · see citing works
Wanders, R. J. A., & Mooyer, P. A. W. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711764 · Cited by 26 · see citing works
Oncometabolite 2-hydroxyglutarate regulates anti-tumor immunity
Cai, M., Zhao, J., Ding, Q., & Wei, J. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e24454 · Cited by 26 · see citing works
Chiral compounds in metabolism: a look in the molecular mirror
Sewell, A., Heil, M., Podebrad, F., & Mosandl, A. (1998) · European Journal of Pediatrics · doi:10.1007/s004310050793 · Cited by 25 · see citing works
Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins
Misra, V. K., Struys, E. A., O’Brien, W. E., Salomons, G. S., Glover, T. W., Jakobs, C., & Innis, J. W. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.06.005 · Cited by 24 · see citing works
Wajner, M., Vargas, C. R., & Amaral, A. U. (2020) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2020.108646 · Cited by 22 · see citing works
Chiral separation of disease biomarkers with 2‐hydroxycarboxylic acid structure
Calderón, C., Santi, C., & Lämmerhofer, M. (2017) · Journal of Separation Science · doi:10.1002/jssc.201701243 · Cited by 22 · see citing works
Strain, S. K., Groves, M. D., Olino, K. L., & Emmett, M. R. (2019) · Clinical mass spectrometry · doi:10.1016/j.clinms.2019.11.002 · Cited by 21 · see citing works
Identification of the d-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II
Watanabe, H., Yamaguchi, S., Saiki, K., Shimizu, N., Fukao, T., Kondo, N., & Orii, T. (1995) · Clinica Chimica Acta · doi:10.1016/0009-8981(95)06074-n · Cited by 22 · see citing works
Eeg‐Olofsson, O., Zhang, W. W., Olsson, Y., Jagell, S., & Hagenfeldt, L. (2000) · Journal of Child Neurology · doi:10.1177/088307380001500714 · Cited by 22 · see citing works
Struys, E. A., Verhoeven‐Duif, N. M., Roos, B., & Jakobs, C. (2003) · Clinical Chemistry · doi:10.1373/49.7.1133 · Cited by 21 · see citing works
Junqueira, D., Brusque, A. M., Porciúncula, L. O., Rotta, L. N., Frizzo, M. E., Wyse, Â. T. D. S., Wannmacher, C. M. D., Souza, D. O., & Wajner, M. (2003) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2003.10.005 · Cited by 20 · see citing works
Švidrnoch, M., Přibylka, A., Vojtěch Bekárek, B., Ševčı́k, J., Smolka, V., & Maier, V. (2016) · Journal of Chromatography A · doi:10.1016/j.chroma.2016.05.095 · Cited by 19 · see citing works
Clinical and MRI findings in a case ofd-2-hydroxyglutaric aciduria
Sugita, K., Kakinuma, H., Okajima, Y., Ogawa, A., Watanabe, H., & Niimi, H. (1995) · Brain and Development · doi:10.1016/0387-7604(94)00123-f · Cited by 19 · see citing works
Bal, D., Gradowska, W., & Gryff‐Keller, A. (2002) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/s0731-7085(02)00032-8 · Cited by 19 · see citing works
Mass spectrometry and clinical chemistry
Hill, R. E., & Whelan, D. T. (1984) · Clinica Chimica Acta · doi:10.1016/0009-8981(84)90274-2 · Cited by 19 · see citing works
D-2-Hydroxyglutaric aciduria and subdural haemorrhage
Kwong, K., Mak, T. W. L., Fong, C. M., Poon, K., Wong, S., & So, K. (2002) · Acta Paediatrica · doi:10.1111/j.1651-2227.2002.tb03309.x · Cited by 17 · see citing works
Leonard, N., Harley, F. L., & Lin, C. C. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990910)86:2 · Cited by 22 · see citing works
1H-NMR Chemical Shifts and Coupling Constants for Brain Metabolites
Govind, V. (2016) · Encyclopedia of Magnetic Resonance · doi:10.1002/9780470034590.emrstm1530 · Cited by 17 · see citing works
Role of isocitrate dehydrogenase in glioma
Alexander, B. M., & Mehta, M. P. (2011) · Expert Review of Neurotherapeutics · doi:10.1586/ern.11.134 · Cited by 16 · see citing works
Smeitink, J. A. M. (2010) · New England Journal of Medicine · doi:10.1056/nejmcibr0912922 · Cited by 16 · see citing works
Struys, E. A., Verhoeven‐Duif, N. M., Salomons, G. S., Berthelot, J., Vianey‐Saban, C., Chabrier, S., Thomas, J., Tsai, A. C.-H., Gibson, K. M., & Jakobs, C. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.12.002 · Cited by 16 · see citing works
Geoerger, B., Schiff, M., Penard‐Lacronique, V., Darín, N., Saad, S.-M., Duchon, C., Lamazière, A., Desmons, A., Pontoizeau, C., Berlanga, P., et al. (2023) · Nature Medicine · doi:10.1038/s41591-023-02382-9 · Cited by 15 · see citing works
A universal metabolite repair enzyme removes a strong inhibitor of the TCA cycle
Zmuda, A. J., Kang, X., Wissbroecker, K. B., Saxhaug, K. F., Costa, K. C., Hegeman, A. D., & Niehaus, T. D. (2024) · Nature Communications · doi:10.1038/s41467-024-45134-0 · Cited by 15 · see citing works
Hariharan, V., Denton, T. T., Paraszcszak, S., McEvoy, K., Jeitner, T. M., Krasnikov, B. F., & Cooper, A. J. L. (2017) · Biology · doi:10.3390/biology6020024 · Cited by 15 · see citing works
2‐Hydoxyglutarate: D/Riving Pathology in gLiomaS
Wahl, D. R., & Venneti, S. (2015) · Brain Pathology · doi:10.1111/bpa.12309 · Cited by 14 · see citing works
Background Levels of Neomorphic 2-hydroxyglutarate Facilitate Proliferation of Primary Fibroblasts
Dvořák, A., Zelenka, J., Smolková, K., Vı́tek, L., & Ježek, P. (2017) · Physiological Research · doi:10.33549/physiolres.933249 · Cited by 14 · see citing works
Geerts, Y., Renier, W. O., Bakkeren, J. A. J. M., & de Jong, J. G. N. (1996) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(96)00179-7 · Cited by 14 · see citing works
A new method for the chiral HRGC assay of L ‐2‐hydroxyglutaric acid in urine
das Neves, H. J. C., Noronha, J. P., & Rufino, H. (1996) · Journal of High Resolution Chromatography · doi:10.1002/jhrc.1240190308 · Cited by 13 · see citing works
Voelxen, N., Walenta, S., Proescholdt, M. A., Dettmer, K., Pusch, S., & Mueller‐Klieser, W. (2016) · Frontiers in Oncology · doi:10.3389/fonc.2016.00046 · Cited by 12 · see citing works
Peripheral neuropathy in a patient with d ‐2‐hydroxyglutaric aciduria
Haliloğlu, G., Temuçin, Ç. M., Oğuz, K. K., Celiker, A., Coşkun, T., Sass, J. O., Fischer, J., & Topçu, M. (2009) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-009-0933-2 · Cited by 12 · see citing works
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy.
Bal, D., Kraska‐Dziadecka, A., Gradowska, W., & Gryff‐Keller, A. (2008) · Acta Biochimica Polonica · doi:10.18388/abp.2008_3103 · Cited by 11 · see citing works
Lin, P., Fan, T. W. ‐., & Lane, A. N. (2022) · Methods · doi:10.1016/j.ymeth.2022.07.014 · Cited by 10 · see citing works
Asensio, A. F., Álvarez-González, E., Rodríguez, A., Sierra, L. M., & Blanco‐González, E. (2021) · Analytica Chimica Acta · doi:10.1016/j.aca.2021.338646 · Cited by 9 · see citing works
Increased activity of surviving locus ceruleus neurons in Alzheimer's disease
Moser (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199901)45:1
Self-citation
- Authors
- Chalmers, R. A., Lawson, A. M., Watts, R. W. E., Tavill, A. S., Kamerling, J. P., Hey, E., & Ogilvie, D.
- Affiliations
- Medical Research Council (GB)
- Utrecht University (NL)
- Great Ormond Street Hospital (GB)
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1980-01
- Volume
- 3
- Issue
- 1
- Pages
- 11-15
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2026978324
- Cited by
- 135
- References
- 25
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 6 · 2023: 2 · 2022: 3 · 2021: 6 · 2020: 4 · 2019: 4 · 2018: 6 · 2017: 9 · 2016: 10 · 2015: 6 · 2014: 2 · 2013: 2 · 2012: 4
- FWCI
- 1.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Porphyrin Metabolism and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Keywords
- D-2-hydroxyglutaric aciduria, organic aciduria, protein-losing enteropathy, egg allergy, inborn errors of metabolism, biochemical studies
- MeSH terms
- Aminolevulinic Acid, Asthma, Child, Preschool, Chromatography, Gas, Chromatography, Ion Exchange, Food Hypersensitivity, Glutarates, Humans, Hydroxylysine, Male, Metabolism, Inborn Errors, Protein-Losing Enteropathies, Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
