Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India.
Indian J Pediatr. 2009 Oct;76(10):1045-7. doi: 10.1007/s12098-009-0220-0. Epub 2009 Nov 12.
X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and adrenal cortex. Retrospective evaluation of medical records of ALD patients were carried out. In all the 5 patients the duration of the symptoms varied from 1-7 years. Most of them presented with Addisonian crisis (4/5) and hyperpigmentation (5/5), white half of them (3/5) had neurological symptoms. All patients had biochemical evidence of the adrenal insufficiency. All siblings of patients should be screened for the possibility of ALD with VLCFA.
X 连锁肾上腺脑白质营养不良(ALD)是过氧化物酶体病中最常见的一种,与极长链脂肪酸(VLCFA)氧化的功能缺陷有关,导致 VLCFA 在白质和肾上腺皮质中积累。对 ALD 患者的病历进行了回顾性评估。在所有 5 名患者中,症状持续时间从 1 年到 7 年不等。他们大多数人都出现了肾上腺皮质功能减退危象(4/5)和皮肤色素沉着(5/5),其中一半人(3/5)有神经症状。所有患者均有肾上腺功能不全的生化证据。所有患者的兄弟姐妹都应进行 VLCFA 筛查,以排除 ALD 的可能。