Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report

Abstract Background This article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with adrenomyeloneuropathy (AMN) associated with a novel splice site mutation in the ABCD1 gene. AMN represents a form of X-linked adrenoleukodys...

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Bibliographic Details
Main Authors: Khrystyna Shchubelka, Olga Herasymenko, Andrii Budzyn, Oleksandr Lysytsia, Anastasiia Rusyn, Olga Oleksyk, Svitlana Tynta, Taras Oleksyk
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Journal of Medical Case Reports
Subjects:
Adrenoleukodystrophy
Adrenomyeloneuropathy
ABCD1 gene
Novel variant
Hematopoietic stem cell transplant
Online Access:https://doi.org/10.1186/s13256-023-04321-1

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