|
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 |
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