A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy


Ozdemir Kutbay N., Ozbek M. N. , Sarer Yurekli B., DEMİRBİLEK H.

NEUROENDOCRINOLOGY LETTERS, cilt.40, ss.36-40, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 40 Konu: 1
  • Basım Tarihi: 2019
  • Dergi Adı: NEUROENDOCRINOLOGY LETTERS
  • Sayfa Sayıları: ss.36-40

Özet

OBJECTIVES: X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. Herein, we present two siblings with X-ALD due to a missense, presumably identical, ABCD1 mutation, who had extremely distinct clinical phenotypes.