Role of MRI in X-linked adrenoleukodystrophy—A case report
X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes, hence impeding VLCFA breakdown leading to its accumulation in plasma and tissues of the body....
Main Authors: | Sajiva Aryal, MBBS, Suraj Sharma, MBBS, MD, Saroj Poudel, MBBS, Sunita Sharma, MPH |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2022-11-01
|
Series: | Radiology Case Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322007130 |
Similar Items
-
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns
by: Patricia L. Hall, et al.
Published: (2020-10-01) -
X-linked adrenoleukodystrophy and primary adrenal insufficiency
by: Marco Cappa, et al.
Published: (2023-11-01) -
Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies
by: Michael R Ryalls, et al.
Published: (2021-06-01) -
Bálint syndrome as the presenting manifestation of adrenoleukodystrophy
by: R. Ghosh, et al.
Published: (2023-04-01) -
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients
by: Yuko Fujiwara, et al.
Published: (2021-08-01)