Research Article: 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
Introduction:
X-linked adrenoleukodystrophy (X-ALD) is a relatively common peroxisomal genetic disorder that affects approximately 1 in 15,000–17,000 individuals worldwide. The disease is caused by various mutations in the ABCD1 (Xq28) gene, which codes for adrenoleukodystrophy protein (ALDP) [1]. This protein acts as a transmembrane transporter of very long-chain fatty acids (VLCFAs) into peroxisomes for subsequent ?-oxidation. Elevated levels of specific acids, such as tetracosanoic acid (C24:0) and hexacosanoic acid (C26:0),…
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