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Alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child

Manders, A.J.; von Oostrom, C.G.; Trijbels, J.M.; Rutten, F.J.; Kleijer, W.J.

European Journal of Pediatrics 136(1): 51-55

1981

ISSN/ISBN: 0340-6199
PMID: 6163632
Document Number: 181448
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 hemoglobin [HbF]. Oral L-lysine loading resulted in a marked increase of .alpha.-aminoadipic acid in blood and urine. After 3 mo. 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 hemoglobin synthesis in which .alpha.-amino-.beta.-ketoadipic acid, a structural analog of .alpha.-amino-adipic acid, is an intermediate.

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