A novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids Plazmada çok uzun zincirli yağ asidi düzeyleri normal olan bir X’e bağlı adrenolökodistrofi hastasında daha önce tanımlanmamış bir ABCD1 gen mutasyonu

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

Marmara Medical Journal, cilt.29, sa.1, ss.45-47, 2016 (Scopus, TRDizin) identifier identifier

Özet

© 2015, Marmara University. All rights reserved.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.