Here, a seven-year-old patient who had atypically normal plasma levels of VLCFAs and whose diagnosis of X-ALD is confirmed by a novel mutation of ABCD1 gene is described.
📌 3 Key Takeaways
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Objective & Hypothesis:X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive neurodegenerative disorder characterized by progressive demyelination of central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs) in plasma and tissues.
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Key Findings & Data:X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive neurodegenerative disorder characterized by progressive demyelination of central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs) in plasma and tissues.
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Conclusion & Impact:Here, a seven-year-old patient who had atypically normal plasma levels of VLCFAs and whose diagnosis of X-ALD is confirmed by a novel mutation of ABCD1 gene is described.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive neurodegenerative disorder characterized by progressive demyelination of central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs) in plasma and tissues. Here, a seven-year-old patient who had atypically normal plasma levels of VLCFAs and whose diagnosis of X-ALD is confirmed by a novel mutation of ABCD1 gene is described.
Özet
X'e bağlı adrenolökodistrofi (X-ALD) hızlı ilerleyici nörodejeneratif bir hastalık olup, santral sinir sisteminin ilerleyici demiyelinizasyonu, adrenokortikal yetersizlik ve plazma çok uzun zincirli yağ asidi (VLCFAs) düzeylerinin yükselmesiyle karakterizedir. Bu yazıda, plazma VLCFA düzeyleri beklenenin aksine normal sınırlarda olan ve X-ALD tanısı ABCD1 geninin daha önce tanımlanmamış bir mutasyonunun gösterilmesiyle konulan 7 yaşındaki erkek hasta sunulmuştur.
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Cite This Article
ZÜBARİOĞLU, T., KIYKIM, E., CANSEVER, M. Ş., ZEYBEK, A. Ç. A. (2016). A novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids. Marmara Medical Journal, Cilt: 29 - Sayı: 1, 45–47. https://ajindex.com/articles/284303
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