European Journal of Pediatrics

, Volume 136, Issue 1, pp 51–55 | Cite as

α-aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child

  • A. J. Manders
  • C. G. v. Oostrom
  • J. M. F. Trijbels
  • F. J. Rutten
  • W. J. Kleijer
Original Investigations

Abstract

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 words

Oligophrenia Raynaud's phenomenon α-Aminoadipic aciduria Persistent HbF 

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Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • A. J. Manders
    • 1
  • C. G. v. Oostrom
    • 1
  • J. M. F. Trijbels
    • 1
  • F. J. Rutten
    • 2
  • W. J. Kleijer
    • 3
  1. 1.Department of Pediatrics, St. Radboud HospitalUniversity of NijmegenNijmegenThe Netherlands
  2. 2.Institute of AnthropogeneticsUniversity of NijmegenNijmegenThe Netherlands
  3. 3.Department of Cell Biology and GeneticsErasmus University, Faculty of MedicineRotterdamThe Netherlands

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