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
Activity	2.6.1.39
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