Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, s...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academya Publishing Co.
2020-03-01
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| Series: | Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | https://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-35-188.pdf |