ABCD1 Gene Mutations: Mechanisms And Management Of Adrenomyeloneuropathy

The document reviewed the mechanisms and management of adrenomyeloneuropathy (AMN), a form of X-linked adrenoleukodystrophy (X-ALD) caused by ABCD1 gene mutations, which led to the accumulation of very long-chain fatty acids. AMN typically presented in adulthood with progressive myelopathy, peripheral neuropathy, and adrenal insufficiency, affecting mainly males. The study highlighted the importance of early diagnosis through newborn screening and molecular genetic testing, as well as the use of hormone replacement therapy for adrenal insufficiency. While hematopoietic stem cell transplantation could prevent cerebral involvement, it did not address adrenal dysfunction or myelopathy. The document emphasized the need for rehabilitation and symptom management, as no treatments existed to prevent or treat AMN myelopathy, and ongoing research into gene therapy and drugs like leriglitazone was noted.