ABSTRACT
Individuals with 2-oxoadipic aciduria have usually been found because of the presence of aminoadipic aciduria, detected by qualitative chromatography on paper or thin layer; high-voltage electrophoresis; quantitative column chromatography; or the amino acid analyzer [1]. 2-Oxoadipic aciduria was recognized by thin layer chromatography of the dinitrophenylhydrazone [1] and proven by gas chromatography/mass spectrometry (GCMS) [1,2]. Deficiency of 2-oxoadipic acid dehydrogenase leads to accumulation of 2-oxoadipic acid, 2-hydroxyadipic acid and 2-aminoadipic acid (Figure 15.1). These compounds were initially reported in the urine of two patients with mental retardation [1,2]. Any relationship would appear to represent ascertainment bias, because two asymptomatic siblings have had the same urinary metabolites as their siblings [2,3]. Three normal siblings detected by newborn screening have also been reported [4]. It is possible that this is a metabolic marker without clinical consequences. It is also possible that this might be a disorder that produces transient effects early in life, as in the case of hawkinsinuria. As in hawkinsinuria intermittent acidosis may be a characteristic in infancy.
