α-aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child
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 α-aminoadipic aciduria and a high level of fetal haemoglobin. Oral l-lysine loading resulted in a marked increase of α-aminoadipic acid in blood and urine. After 3 months of pyridoxine medication the increase of α-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-α-amino [1-14C] adipic acid in fibroblasts of the patient, as measured by 14CO2 production, did not indicate a primary enzyme defect in the α-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 α-amino-β-ketoadipic acid, a structural analogue of α-aminoadipic acid, is an intermediate.
Key wordsOligophrenia Raynaud's phenomenon α-Aminoadipic aciduria Persistent HbF
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