• Journal of the Korean Child Neurology Society
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• v.24 no.3
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• pp.71-83
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• 2016

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.195-199
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• 2014

The X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease by defects of ABCD1 gene on chromosome Xq28 leading to accumulation of saturated very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. A 4-year-old boy was visited hospital with the chief compliant of hyperpigmentation beginning at 2-years old. Serum adrenocorticotropic hormone (ACTH) and cortisol concentration were compatible with adrenal insufficiency. The elevated plasmatic concentration of VLCFA and genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed no abnormal high signal intensity on the white matter. Steroid replacement was started with good response. He initiated Lorenzo's oil with restriction of VLCFA by reducing the intake of fatty foods. The author highlight the importance of suspecting of X-ALD in the etiology of primary adrenal insufficiency as the first sign of the disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.33-43
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• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1232-1238
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• 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 least 12 months were enrolled from 1996 to 2003. During treatment, changes of neurologic symptoms, brain magnetic resonance imaging(MRI) findings, and serum saturated very long-chain fatty acid(C26:0) were assessed. Results : Two patients with childhood cerebral ALD had progression of neurologic symptoms and MRI lesions during treatment. One asymptomatic patient developed childhood cerebral ALD after six year treatment of Lorenzo's oil. One "Addison only" patient remained neurologically intact after three years. During Lorenzo's oil therapy, serum C26:0 levels which had increased at diagnosis decreased in all four patients. Conclusion : Treatment with Lorenzo's oil did not prevent disease progression in childhood cerebral ALD patients who were already symptomatic. Long term follow up will be needed in asymptomatic ALD including "Addison only" to reveal the efficacy of Lorenzo's oil.

• Journal of English Language & Literature
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• v.57 no.3
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• pp.413-428
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• 2011

Compared with Cathy Song and Myung-Mi Kim, Suji Kwock Kim is yet to be known in Korea, even though she won prestigious American literary awards like the Walt Whitman Award from the Academy of American Poets and the Addison Metcalf Award from the American Academy of Arts and Letters for her debut book of poems, Notes from the Divided Country. Although she was born and raised in the United States and had little knowledge of Korean at first, she came to recognize her identity and be familiar by and by with Korean history. The knowledge of the facts that Korea had been ravaged by foreign forces and suffered from the Japanese colonization and the Korean War aches her soul, and this soul-aching is aggravated by her ancestors' direct experiences of those Korean historical tragedies. But this book of poems does not contain poems regarding Korean history alone. The first part shows her guilty consciouseness for her brother and sister, who are suggested to be physically abnormal or mentally retarded. The third and fourth parts are filled with poems of very diverse subject matters, tones, and themes. Of those poems, "Monologue for an Onion" is probably most worthy of special attention. It is not only a searing indictment for human folly but also a very intriguing poetic rendering of Nietzschean ultimate lessson. Her achievement in the first book of poems makes us eagerly wait for the second one, which is, reportedly, forthcoming sooner or later.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.3
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• pp.149-154
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• 2004

Objective: To assess the association with autoimmune endocrine diseases and detection rate of autoimmune antibodies and its clinical significance in patients with premature ovarian failure. Methods: Twenty eight patients with primary or secondary amenorrhea manifesting hormonal and clinical features of premature ovarian failure (primary POF: 7, secondary POF: 21) were investigated. We tested them TFT, 75 g OGTT, ACTH and S-cortisol for thyroiditis, IDDM, Addison's disease, and antithyoglobulin antibody, antimicrosomal antibody, antinuclear antibody, rheumatic factor, anti-smooth muscle antibody, anti-acetylcholine receptor antibody for non-organ specific autoimmune disorders. Results: Only one patient was diagnosed as IDDM and no patients had abnormal TFT or adrenal function test. More than one kind of autoantibody was detected in 11 patients of all (39.2%): 5 patients (71.4%) of primary POF group and 6 patients (21.4%) of secondary POF group. Eleven patients (39.3%) had antithyroglobulin antibody, 4 (14.3%) had antimicrosomal antibody, 2 (7.1%) had antinuclear antibody, 2 (7.1%) had rheumatic factor, 1 (3.6%) had anti-smooth muscle antibody, 1 (3.6%) had anti-acetylcholine receptor antibody. Conclusions: Premature ovarian failure may occur as a component of an autoimmune polyglandular syndrome, so patients should be measured with free thyroxine, thyroid-stimulating hormone, fasting glucose and electrolytes. Measurement of thyroid autoantibodies in POF patients may be important in identifying patients at risk of developing overt hypothyoidism, but other autoantibodies may not be suitable for screening test.