α‐aminoadipic aciduria: Chemical and enzymatic studies

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Abstract
A new case of α-aminoadipic aciduria had an apparent immunodeficiency and died at the age of 4 months. The urine contained large amounts of α-aminoadipate and smaller quantities of α-keto- and α-hydroxyadipate.Post mortem, the highest concentrations of α-aminoadipate were found in liver and kidney. Enzymatic studies on liver and cultured fibroblasts failed to demonstrate the expected deficiency of α-aminoadipate aminotransferase, a result perhaps explicable by the presence of cytoplasmic aminotransferase activity.

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