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Biochemical and clinical studies of a new case of α-aminoadipic aciduria

✍ Scribed by R. E. Casey; W. A. Zaleski; M. Philp; I. S. Mendelson; S. L. MacKenzie


Publisher
Springer
Year
1978
Tongue
English
Weight
820 KB
Volume
1
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