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

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

NEUROENDOCRINOLOGY LETTERS, vol.40, no.1, pp.36-40, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 1
  • Publication Date: 2019
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.36-40
  • Hacettepe University Affiliated: Yes


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.