2014年5月1日 · Urine from non-AKU patients spiked with varying amounts of HGA confirmed the significant positive interference with the benzethonium turbidometric assay giving values for urine protein ranging from 0.1 to 1 g/L for HGA between 0.5 and 10 mmol/L (Fig. 4).

2024年3月7日 · Accumulation of homogentisic acid (HGA) is the core biochemical abnormality of AKU, leading to a painful multisystemic disease characterized by a range of...

Accumulation of d -2-hydroxyglutarate (D-2-HG) and/or l -2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980.

Urine enzymatic creatinine and urate with >2mmol/L HGA showed concentration dependent negative interference up to 80%. A positive interference in urine total protein by benzethonium turbidometric assay was observed, with 10mmol/L HGA equivalent to 1g/L protein.

HGA is a specific metabolite in urine and serum, which is used for diagnosis of alkaptonuria. This study presents an inexpensive and easy capillary electrophoretic method for the quantitative determination of HGA in urine samples. The method was optimized using full factorial experimental design.

2014年7月15日 · Using reverse phase LC-MS/MS, a method has been developed to simultaneously quantify urinary HGA and tyrosine. Using matrix-matched calibration standards, two product ion transitions were identified for each compound and their appropriate isotopically labelled internal standards.

Diagnosis requires demonstration of increased plasma or urinary HGA and decreased homogentisate-1,2-dioxygenase activity in liver or kidney cells. Genetic testing can also be undertaken, although it is usually a research procedure. The patient need not be fasting and no special preparations are necessary.

2-Hydroxyglutaric aciduria disorders are a group of cerebral organic acidurias that present biochemically with an elevation of 2-hydroxyglutaric acid (2-HGA) in the urine. There are 2 enantiomers of 2-HGA, the D-form and the L-form. Depending on the genetic defect, individuals may have an elevation of one or both forms of 2-HGA.

2014年5月1日 · We studied the effect of homogentisic acid (HGA) on assays using Cobas-Roche Modular chemistries. Negative interference up to 50% by HGA in serum enzymatic creatinine and urate. Millimolar HGA in urine showed up to 100% reduction with the above assays.

2020年7月15日 · A highly sensitive method for determining urine homogentisic acid (HGA) is required to provide adequate diagnosis and therapy for alkaptonuria in early stages. In this study, we developed a highly sensitive high-performance liquid chromatography with electrochemical detection (HPLC-ECD) for determining HGA in urine.