α‐aminoadipic aciduria: Chemical and enzymatic studies

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.