D-glyceric aciduria
نویسندگان
چکیده
منابع مشابه
D-glyceric aciduria.
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 unkn...
متن کاملBiochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria.
During organic acid screening by gas chromatography/mass spectrometry, we detected a large peak corresponding to glyceric acid in a patient's urine sample. The D(+) configuration was demonstrated by a polarimetric method and by enzymatic stereospecificity of D-glycerate dehydrogenase (EC 1.1.1.29). We biochemically investigated this fifth reported case of D-glyceric acidemia. In our patient, lo...
متن کاملA Developmental Study of D-Glyceric Acid Dehydrogenase.
Since the mere presence of an enzyme in a tissue does not establish a physiological role, further data are needed in order to elucidate the possible metabolic function of this enzyme. As an aid in obtaining such information, the developmental pattern of this dehydrogenase was studied. The previous investigation (13) had shown that although D-glyceric acid dehydrogenase is widely distributed in ...
متن کاملDisease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.
BACKGROUND D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and the combined D/L-2-hydroxyglutaric aciduria (D/L-2-HGA) are poorly understood organic acidurias. To investigate the usefulness of cultured human skin fibroblasts for both diagnostic and research purposes, we measured disease-related metabolites in the cell culture medium. METHODS We measured D-2-hyd...
متن کاملMevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressi...
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ژورنال
عنوان ژورنال: Anais da Academia Brasileira de Ciências
سال: 2015
ISSN: 1678-2690,0001-3765
DOI: 10.1590/0001-3765201520150021