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α‐aminoadipic aciduria: Chemical and enzymatic studies
Author(s) -
Gray R. G. F.,
O'Neill E. M.,
Pollitt R. J.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805664
Subject(s) - enzyme , urine , kidney , biochemistry , chemistry , liver metabolism , medicine , biology , endocrinology
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.