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Case Report
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2014;57(9):416-419.   Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

Original Article
Lorenzo's Oil Treatment in X-linked Adrenoleukodystrophy
Hyo Jung Kim, Eun Young Kim, Young Jong Woo, Hoon Kook
Clin Exp Pediatr. 2005;48(11):1232-1238.   Published online November 15, 2005

Purpose: Though more than 15 years have passed after introduction of Lorenzo's oil therapy in X- linked adrenoleukodystrophy(ALD), its efficacy is still fully not known. In patients who already have neurologic symptoms, most reports indicate that the neurologic disability continues to increase. We evaluated its efficacy in X-linked ALD patients. Methods: Four patients who were treated with Lorenzo's oil for at...
A Case of Adrenoleukodystrophy.
Kee Sung Yang, Soo Tack Bae, Hong Bae Kim, Ji Sub Oh
Clin Exp Pediatr. 1989;32(3):430-437.   Published online March 31, 1989
We experienced a case of Adrenoleukodystrophy (ALD), which is a genetically determined metabolic disorder associated with progressive demyelination of brain white matter and adrenal insuficiency. An 11 year old male revealed rapidly evolving neuologic progression, decreased adrenal reserve, increased plasma content of very long chain fatty acids (VLCFAs) and typical radiological findings. We report here the clinical findings of this patient with brief review of...