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A patient with α-ketoadipic and α-aminoadipic aciduria

✍ Scribed by M. Duran; F. A. Beemer; S. K. Wadman; U. Wendel; B. Janssen


Publisher
Springer
Year
1984
Tongue
English
Weight
163 KB
Volume
7
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