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Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy.
Yifan Zhang1, Dongmei Guo1, Yi Tang1
1a Department of Neurology, Xuan Wu Hospital , Capital Medical University , Beijing , P. R. China.
The International Journal of Neuroscience
|December 30, 2017
Summary
X-linked adrenoleukodystrophy (X-ALD) is an inherited condition causing fatty acid buildup. This case highlights severe autonomic dysfunction in an X-ALD patient, potentially linked to mitochondrial issues.
Area of Science:
- Genetics
- Neurology
- Metabolic Disorders
Background:
- X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder characterized by the accumulation of very long chain fatty acids (VLCFAs).
- The ABCD1 gene mutation is the primary cause, typically leading to adrenal insufficiency and demyelination in the nervous system.
- While spastic paraparesis is common, severe autonomic dysfunction is an infrequent manifestation of X-ALD.
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