2015
DOI: 10.1590/0001-3765201520150021
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Abstract: Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric aciduria is an inherited disease caused by a deficiency of glycerate 2-kinase activity, whose pathophysiological mechanisms remain unknown. The main clinical and neurological symptoms seen in affected patients include progressive encephalopathy, hypoton… Show more

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Cited by 6 publications
(2 citation statements)
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“…Glyceric acid (GA), which is an α-hydroxylic acid metabolite, is serum and urine biomarkers increased in metabolic disorders. [1][2][3][4] D-and L-chiral isomers of GAs are produced by D-GA kinase 5,6 and dehydrogenase 7,8 individually, which relate to different metabolic diseases. Thus, careful monitoring of GA isomers as biomarkers is very important for appropriate treatment.…”
Section: Introductionmentioning
confidence: 99%
“…Glyceric acid (GA), which is an α-hydroxylic acid metabolite, is serum and urine biomarkers increased in metabolic disorders. [1][2][3][4] D-and L-chiral isomers of GAs are produced by D-GA kinase 5,6 and dehydrogenase 7,8 individually, which relate to different metabolic diseases. Thus, careful monitoring of GA isomers as biomarkers is very important for appropriate treatment.…”
Section: Introductionmentioning
confidence: 99%
“…Especially, the separation of chiral acid is also very vital. In the case of lactic acid, 20 2hydroxyglutaric acid, 21 and glyceric acid, 22 changes in enantiomeric proportions play a vital role in disease. Their enantioselective analysis is consequently a major concern in biomarker studies and clinical analysis.…”
Section: Introductionmentioning
confidence: 99%