• 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.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.2
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• pp.107-110
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• 2013

Adrenoleukodystrophy (ALD) is a rare, inherited disorder that leads to progressive brain damage and failure of the adrenal glands. It is passed down from parents to their children as an X-linked genetic trait. Therefore, it affects primarily males especially under the age of 10. People with ALD have excessive accumulation of very long chain fatty acids (VLCFAs) in their brain because they do not have the enzyme which break down these fatty acids. Special method for treatment of ALD is not available. Eating a diet low in VLCFAs and taking special oils, called Lorenzo's oil, can lower the blood levels of VLCFAs. But this oil cannot stop the destruction of nerve cell. This article presents a case report: Dental treatment of a 11-year-old male patient with ALD under general anesthesia. Careful management must be required during treatment procedure because of difficulty in cooperation, seizure disorders, gastroesophageal reflux, pulmonary aspiration and airway complications.

• 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.