A novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids


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Zubarioglu T., Kiykim E. , Cansever M. Ş. , Aktuglu Zeybek C.

MARMARA MEDICAL JOURNAL, cilt.29, ss.45-47, 2016 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 29 Konu: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.5472/mmjcr.2901.08
  • Dergi Adı: MARMARA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.45-47

Özet

X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive neurodegenerative disorder characterized by progressive demyelination of central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs) in plasma and tissues. Here, a seven-year-old patient who had atypically normal plasma levels of VLCFAs and whose diagnosis of X-ALD is confirmed by a novel mutation of ABCD1 gene is described.