Urine 2-hydroxyglutaric acid

Rashed, M.S., AlAmoudi, M., and Aboul-Enein, H.Y., Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine, Biomed. Chromatogr., 14, 317, 2000. 

GA-1 results in the accumulation of 3-hydroxyglutaric acid and glutaric acid in the urine [1,2], the metabolites most likely associated with the risk of neurological damage (Box 19.1). 

Inborn errors of metabolism, such as the 2-hydroxyglutaric aciduria and maple syrup urine disease, can be detected by a similar characterisation of the metabolic pattern of the urine. Whereas 250-MHz field strength turned out to be too small to find the differences in the hydroxyl acid pattern in the urine [43], 750 and 800-MHz enable one to make a differential diagnosis of the inborn diseases [44]. 

Fig. 11.2 Total ion current chromatogram (Varian MAT 44 GC-MS) of organic acids extracted using ethyl acetate and diethyl ether from the urine of a patient with propionic acidaemia and separated as their trimethylsilyl derivatives on a 25 m SE-54 WCOT capillary column using temperature programming from 70°C to 220°C at 4 C min Peak identifications are 1, lactate 2, 3-hydroxypropionate 3, 3-hydroxybutyrate 4, 2-methyl-3-hydroxybutyrate 5, 3-hydroxyisovalerate 6, 3-hydroxy- -valerate 7, aceto-acetate 8 and 9, 2-methyl-3-hydroxyvalerate 10, 3-oxovalerate 11, 2-methyl-3-oxo-valerate (isomer 1) 12,2-methylacetoacetate 13,2-methyl-3-oxovalerate (isomer 2) 14 propionylglycine 15, glutarate 16, adipate 17, 5-hydroxymethyl-2-furoate 18, 2-hydroxyglutarate 19,3-hydroxy-3-methylglutarate 20,4-hydroxyphenylacetate 21 and 22, methylcitrate 23,4-hydroxyphenyl-lactate 24, palmitate. (Redrawn with modifications from Truscott et al., 1979)...

Fig. 13.2 Chromatogram of organic acids extracted using ethyl acetate from the urine from a patient (S.G.) with 2-oxoadipic aciduria and separated as their trimethylsilyl derivatives on 5 per cent SE-52 on Chromosorb W (AW-DMCS, 100-120 mesh) by temperature programming from 75°C to 220°C at 2°C min with 10 min initial and final isothermal delays. Peak identifications are 1, 3-hydroxybutyrate 2, urea 3, glutarate 4, butenedicarboxylate 5,4-phenylbutyrate (internal standard) 6,2-hydroxyglutarate 7, 2-oxoglutarate 8, 2-hydroxyadipate 9, 2-oxoadipate 10, aconitate. (Redrawn with modifications from Przyrembel et al, 1975)...

Fig. 14.10 Chromatogram of the organic acids extracted using DEAE-Sephadex with solvent re-extraction from the same urine specimen illustrated in Fig. 14.8. Separation conditions are as described for Fig. 14.8. Peak identifications are 1, lactate + phenol 2, cresol + 3-hydroxypropionate 3, 3-hydroxybutyrate 4, 3-hydroxyisovalerate 5, phosphate 6, succinate 7, 3-hydroxyhexanoate 8, 5-hydroxyhexanoate 9, glutarate 10, 3-methylglutarate 11, unidentified 12, 3-methylglutaconate 13, unidentified 14, adipate 15, 3-methyladipate 16, trihydroxybenzene 17, 2-hydroxyglutarate 18, pimelate (heptanedioate) 19, 3-hydroxy-3-methylglutarate 20, 4-hydroxy-...

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