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B6db references: 82079116

type Journal Article
authors Gray, R. G.; O'Neill, E. M.; Pollitt, R. J.
title Alpha-aminoadipic aciduria: chemical and enzymatic studies
journal J Inherit Metab Dis
ui 82079116
year (1980)
volume 2
number 4
pages 89-92
keywords 2-Aminoadipic Acid/blood/*urine
abstract 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.
last changed 2002/11/12 16:17

B6db references