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α-aminoadipic aciduria: Chemical and enzymatic studies

✍ Scribed by R. G. F. Gray; E. M. O'Neill; R. J. Pollitt


Publisher
Springer
Year
1979
Tongue
English
Weight
494 KB
Volume
2
Category
Article
ISSN
0141-8955

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The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed alpha-aminoadipic aciduria and a high level of fetal haemoglobin. Oral L-lysine loading resulted in a marked increase of al