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Select item 109219601.

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

Roberto Leal-Ortega, Luis Enrique Parra-Medina, Lizbeth Josefina González-Herrera

Tremor Other Hyperkinet Mov (N Y) 2024; 14: 12. Published online 2024 Mar 7. doi: 10.5334/tohm.854

PMCID:: PMC10921960

Article PDF–811K

Select item 107262522.

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria

Jun Yang, Xingchen Chen, Shan Jin, Jianping Ding

J Biol Chem. 2024 Jan; 300(1): 105491. Published online 2023 Nov 22. doi: 10.1016/j.jbc.2023.105491

PMCID:: PMC10726252

Article PDF–3.2M

Select item 102385663.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz, Mehmet Nuri Ozbek, Asude Durmaz, Ayçe Aykut, Melis Kose

Mol Genet Metab Rep. 2023 Sep; 36: 100979. Published online 2023 May 23. doi: 10.1016/j.ymgmr.2023.100979

PMCID:: PMC10238566

Article PDF–454K

Select item 101292784.

L-2-hydroxyglutaric aciduria – review of literature and case series

Sibtain Ahmed, Ayra Siddiqui, Ralph J. DeBerardinis, Min Ni, Wen Gu Lai, Feng Cai, Hieu S. Vu, Bushra Afroze

Ann Med Surg (Lond) 2023 Apr; 85(4): 712–717. Published online 2023 Apr 4. doi: 10.1097/MS9.0000000000000326

PMCID:: PMC10129278

Article PDF–576K

Select item 100611925.

A novel missense variant in the L2HGDH gene in a cat with L‐2‐hydroxyglutaric aciduria and multicystic cerebral lesions

Matthias Christen, Veronica Gonzalo‐Nadal, Adriana Kaczmarska, Magdalena Dyrka, Julien Guevar, Vidhya Jagannathan, Tosso Leeb, Rodrigo Gutierrez‐Quintana

J Vet Intern Med. 2023 Mar-Apr; 37(2): 676–680. Published online 2023 Mar 7. doi: 10.1111/jvim.16675

PMCID:: PMC10061192

Article PDF–760K

Select item 99156036.

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

Yu Leng Phua, Olivia M D’Annibale, Anuradha Karunanidhi, Al-Walid Mohsen, Brian Kirmse, Steven F Dobrowolski, Jerry Vockley

Version 1. bioRxiv. Preprint. 2023 Feb 3. doi: 10.1101/2023.02.02.526527

PMCID:: PMC9915603

Article PDF–3.4M

Select item 87483407.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Muhammad Muzammal, Muhammad Zeeshan Ali, Beatrice Brugger, Jasmin Blatterer, Safeer Ahmad, Sundas Taj, Syed Khizar Shah, Saadullah Khan, Christian Enzinger, Erwin Petek, Klaus Wagner, Muzammil Ahmad Khan, Christian Windpassinger

Metab Brain Dis. 2022; 37(1): 243–252. Published online 2021 Nov 1. doi: 10.1007/s11011-021-00832-2

PMCID:: PMC8748340

Article PDF–2.1M

Select item 83278198.

Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria

Jithin George, Pushpagiri Sandhya, Kizhakethil Velliyatil Sajitha, Soumya Sundaram

BMJ Case Rep. 2021; 14(7): e244038. Published online 2021 Jul 30. doi: 10.1136/bcr-2021-244038

PMCID:: PMC8327819

Article PDF–498K

Select item 81472969.

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Matthias Christen, Nils Janzen, Anne Fraser, Adrian C. Sewell, Vidhya Jagannathan, Julien Guevar, Tosso Leeb, Daniel Sanchez-Masian

Genes (Basel) 2021 May; 12(5): 682. Published online 2021 May 1. doi: 10.3390/genes12050682

PMCID:: PMC8147296

Article PDF–1.0M

Select item 796882510.

Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data

Z. Patay, J.C. Mills, U. Löbel, A. Lambert, A. Sablauer, D.W. Ellison

AJNR Am J Neuroradiol. 2012 May; 33(5): 940–943. doi: 10.3174/ajnr.A2869

PMCID:: PMC7968825

Article PDF–573K

Select item 753646011.

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

Tanyel Zübarioğlu, Cengiz Yalçınkaya, Çiğdem Oruç, Ertuğrul Kıykım, Mehmet Şerif Cansever, Alper Gezdirici, Gözde Yeşil, Ece Öge Enver, Çiğdem Aktuğlu Zeybek

Turk Pediatri Ars. 2020; 55(3): 290–298. Published online 2020 Sep 23. doi: 10.14744/TurkPediatriArs.2019.06926

PMCID:: PMC7536460

Article PDF–1.1M

Select item 735928112.

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li, Shuizhen Zhou

BMC Neurol. 2020; 20: 278. Published online 2020 Jul 13. doi: 10.1186/s12883-020-01854-6

PMCID:: PMC7359281

Article PDF–788K

Select item 731358613.

Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever

Suresh Kumar, Shikha Bhatia, Mukesh Surya, Sanjiv Sharma

Ann Indian Acad Neurol. 2020 May-Jun; 23(3): 352–354. Published online 2020 Jun 10. doi: 10.4103/aian.AIAN_385_18

PMCID:: PMC7313586

Article PDF–680K

Select item 695663914.

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria

Dr. A Olgac, Orgun L Tekin, FS Ezgü, G Biberoǧlu, L Tümer

Balkan J Med Genet. 2019 Dec; 22(2): 93–96. Published online 2019 Dec 21. doi: 10.2478/bjmg-2019-0015

PMCID:: PMC6956639

Article PDF–301K

Select item 632302015.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

Anja von Renesse, Susanne Morales-Gonzalez, Esther Gill, Gajja S. Salomons, Werner Stenzel, Markus Schuelke

JIMD Rep. 2019; 43: 27–35. Published online 2018 Apr 14. doi: 10.1007/8904_2018_93

PMCID:: PMC6323020

Article PDF–1.0M

Select item 617701216.

A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation

Hongde Li, Alexander J. Hurlburt, Jason M. Tennessen

Dis Model Mech. 2018 Sep 1; 11(9): dmm035337. Published online 2018 Sep 21. doi: 10.1242/dmm.035337

PMCID:: PMC6177012

Article

Select item 613786817.

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng

BMC Med Genet. 2018; 19: 167. Published online 2018 Sep 14. doi: 10.1186/s12881-018-0675-9

PMCID:: PMC6137868

Article PDF–937K

Select item 607486018.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

Muhammad Faiyaz-Ul-Haque, Moeenaldeen D. Al-Sayed, Eissa Faqeih, Masood Jamil, Anjum Saeed, Mohamed Saleh Amoudi, Namik Kaya, Halah Abalkhail, Ahmed Al-Abdullatif, Mohamed Rashed, Mohammed Al-Owain, Iskra Peltekova, Syed HE Zaidi

Ann Saudi Med. 2014 Mar-Apr; 34(2): 107–114. doi: 10.5144/0256-4947.2014.107

PMCID:: PMC6074860

Article PDF–778K

Select item 583047819.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons

J Inherit Metab Dis. 2018; 41(2): 169–180. Published online 2017 Dec 13. doi: 10.1007/s10545-017-0106-7

PMCID:: PMC5830478

Article PDF–2.1M

Select item 471104020.

Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria

Pichet Termsarasab, Steven J Frucht

J Clin Mov Disord. 2014; 1: 9. Published online 2014 Dec 11. doi: 10.1186/s40734-014-0009-9

PMCID:: PMC4711040

Article PDF–515K

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