Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience


Olgac A., Kasaplcara C. S. , Derinkuyu B., Yuksel D., Cetinkaya S., Aksoy A., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.9, pp.1169-1179, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 9
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2021-0032
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.1169-1179
  • Keywords: ABCD1 gene, Loes score, very long chain fatty acids, X linked adrenoleukodystophy
  • Hacettepe University Affiliated: Yes

Abstract

Objectives: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of ABCD1 gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. We present 12 patients with several subtypes of X-ALD that were followed-up in a single center.