We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria
- Authors
Struys, Eduard A.; Verhoeven, Nanda M.; Brunengraber, Henri; Jakobs, Cornelis
- Abstract
D-2-Hydroxyglutaric aciduria is an inborn error of metabolism first described in 1980. To date, more than 40 patients have been diagnosed with this disease. To identify the metabolic precursor of D-2-hydroxyglutarate (D-2-HG), cultured human lymphoblasts from two patients with D-2-HG aciduria were grown in culture medium supplemented with [U-13C6]glucose or [2H5]glutamate. Mass isotopomer distribution measurements of D-2-HG, 2-ketoglutarate (2-KG) and citrate were performed by gas chromatography-mass spectrometry. The mass isotopomer distributions in D-2-HG, 2-KG and citrate, following [U-13C6]glucose and [2H5]glutamate incubations, revealed that 2-KG interconverts rapidly to D-2-HG and that D-2-HG is formed within the mitochondria.
- Subjects
METABOLISM; LYMPHOBLASTIC leukemia; CELL culture; GLUCOSE
- Publication
FEBS Letters, 2004, Vol 557, Issue 1-3, p115
- ISSN
0014-5793
- Publication type
Article
- DOI
10.1016/S0014-5793(03)01459-5