Alpha-aminoadipic aciduria: chemical and enzymatic studies

J Inherit Metab Dis. 1980;2(4):89-92. doi: 10.1007/BF01805664.


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

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 2-Aminoadipic Acid / blood
  • 2-Aminoadipic Acid / urine*
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acids / urine
  • Amino Acids, Dicarboxylic / urine*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis*


  • Amino Acids
  • Amino Acids, Dicarboxylic
  • 2-Aminoadipic Acid