α-aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child
✍ Scribed by A. J. Manders; C. G. v. Oostrom; J. M. F. Trijbels; F. J. Rutten; W. J. Kleijer
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 944 KB
- Volume
- 136
- Category
- Article
- ISSN
- 0340-6997
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✦ Synopsis
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 alpha-aminoadipic acid in blood and urine. After 3 months of pyridoxine medication the increase of alpha-aminoadipic acid in blood and urine during the oral L-lysine loading test was less than in the test before treatment. A normal degradation rate of DL-alpha-amino [1-14C] adipic acid in fibroblasts of the patient, as measured by 14CO2 production, did not indicate a primary enzyme defect in the alpha-aminoadipic acid transamination or decarboxylation steps. The persistent HbF could be the result of stress on the erythropoiesis by a secondary induced defect in an early stage of haemoglobin synthesis in which alpha-amino-beta-ketoadipic acid, a structural analogue of alpha-amino-adipic acid, is an intermediate.