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D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
In studies of cultured fibroblasts [29, 33], the media in which cells derived from patients with D-2-hydroxyglutaric aciduria grew contained 5 to 30 times the control concentration of D-2-hydroxyglutaric acid. Studies of cultured human lymphoblasts incubated with 13C-labeled glucose or 3H-labeled glutamate indicated that D-2-hydroxyglutaric acid is rapidly converted to 2-oxoglutaric acid [34]. D-2-hydroxyglutaric acid is a metabolic intermediate in a variety of pathways. The simplest conversion from 2-oxoglutarate is catalyzed by D-2-hydroxyglutaric acid dehydrogenase (EC 1.1.99.6). This is the site of the defect in type 1 [35]. Mean activities in control fibroblast and lymphoblast homogenates were 208 + 207 and 1670 + 940 pmol/hour/mg protein. Cells derived from patients were less than 41 pmol/hour/mg protein.
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Published in Pediatric Hematology and Oncology, 2020
Anand Srinivasan, Yaolin Zhou, Teresa Scordino, Sandeep Prabhu, Andrea Wierenga, Garfield Simon, Klaas J. Wierenga, Joel Thompson, Rikin Shah, Arpan A. Sinha
Mutations in IDH have also been associated with a rare inborn error of metabolism disorder, D-2-hydroxyglutaric aciduria (D-2-HGA), characterized by elevated D-2-hydroxyglutaric acid (D-2HG) concentrations in urine and other body fluids. D-2-HGA type I (OMIM 600721) is characterized by homozygous or compound heterozygous mutation in the D-2-hydroxyglutarate dehydrogenase (D2HGDH) gene. In contrast, D-2-HGA type II (OMIM 613657) is characterized by heterozygous gain-of-function mutation in isocitrate dehydrogenase 2 (IDH2) gene.5 In both types, pathologic accumulation of D-2-HG subsequently leads to the clinical manifestations of D-2-HGA, which include developmental delay, dysmorphic features, hypotonia and seizures.6
In vitro and in vivo analysis of metabolites involved in the TCA cycle and glutamine metabolism associated with cisplatin resistance in human lung cancer
Published in Expert Review of Proteomics, 2021
Jiwei Guo, Jing Yu, Feng Peng, Jinzi Li, Zhirong Tan, Yao Chen, Tai Rao, Yicheng Wang, Jingbo Peng, Honghao Zhou
HPLC-grade acetonitrile, methanol, and acetic acid were purchased from Merck (Germany). Ammonium hydroxide [25% (w/v)] solution and ammonium acetate crystals were supplied by Fisher Scientific. D/L-2-Hydroxyglutaric acid disodium salt was purchased from Sigma-Aldrich (Shanghai, China). Succinate, α-KG, glutamine, and glutamate were obtained from the National Institutes for Food and Drug Control (Beijing, China). Stock solutions of the above analytes at 1 mg/mL were prepared in deionized water and filtered with a nitrocellulose syringe filter (0.45 μm). Working solutions for linearity and partial method validation were prepared by diluting the stock solutions with 50:50 (v/v) water/methanol.
BCG-induced trained immunity in macrophage: reprograming of glucose metabolism
Published in International Reviews of Immunology, 2020
Yuntong Liu, Shu Liang, Ru Ding, Yuyang Hou, Feier Deng, Xiaohui Ma, Tiantian Song, Dongmei Yan
β-glucan also induced glutamine metabolism to drive the TCA cycle. Related works demonstrated that glutamine metabolism caused the accumulation of 2-hydroxyglutaric acid(2-HG), succinate, fumarate and malate, while had no impact on the production of pyruvate or lactate37,43. Glutamine has shown an important role in immune metabolism.83 In BCG and β-glucan-trained models, the use of BPTES to inhibit glutaminase also proved the necessity of glutamine metabolism in trained immunity.42,43