2- Oxoadipic acid/aciduria

Approximately thirteen cases of 2-aminoadipic aciduria have been reported in the literature. Nine of the reported patients excreted in addition more or less significant amounts of 2-oxoadipic acid, some also 2-hydroxy-adipic acid and variable amounts of glutaric acid. The latter results obviously from spontaneous decarboxylation of 2-oxoadipic acid. 

Alkyldihydroxyacetonephosphate synthase deficiency 2-Aminoadipate aminotransferase deficiency 2-Aminoadipic semialdehyde synthetase deficiency -Aminolevulinic acid dehydratase deficiency 2-Amino-/2-oxoadipic aciduria Amylo-l,6-glucosidase deficiency Amylopectinosis Andersen disease Androgen Insensitivity syndrome Apolipoprotein A-I deficiency Apolipoprotein B-lOO deficiency Apolipoprotein C-II deficiency... 

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)...

In summary, 2-ketoadipic aciduria is characterized by an increased plasma and urine 2-aminoadipic acid, and excretion of 2-oxoadipic and 2-hydroxyadipic acids. 1,2-Butenedicarboxylic and glutaric aciduria may also... 

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