PURPOSE OF REVIEW Adrenoleukodystrophy (ALD) is a peroxisomal disorder with varying clinical presentations, including adrenal insufficiency, neurologic disease, and testicular dysfunction. The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment. RECENT FINDINGS New York State initiated newborn screening for ALD on December 30, 2013. Successful ALD newborn screening has led to its addition on other state newborn screens and recommendations for universal screening. Initial incidence reports, based on newborn screening, suggest ALD may be more common than previously described. The Pediatric Endocrine Society has published guidance for monitoring newborn males with ALD and case reports suggest biochemical adrenal insufficiency can be present during early infancy. Allogeneic hematopoietic stem cell transplant and gene therapy have been effective at halting the progression of cerebral ALD. SUMMARY Early diagnosis and monitoring for progression of ALD can prevent adrenal crisis and treat the cerebral form of the disease. Initial guidelines for surveillance are likely to evolve as newborn screening not only aids in early detection and therapeutic interventions for ALD, but also expands our knowledge of the natural history of ALD.

中文翻译：

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新生儿筛查时代的肾上腺皮质营养不良。

审查目的肾上腺皮质营养不良（ALD）是一种过氧化物酶体紊乱，具有各种临床表现，包括肾上腺皮质功能不全，神经系统疾病和睾丸功能障碍。本综述旨在描述ALD病理生理学的最新知识，并提供有关新生儿筛查，诊断，监测和治疗的最新信息。最近的调查结果纽约州于2013年12月30日开始进行ALD新生儿筛查。成功的ALD新生儿筛查已将其添加到其他州的新生儿筛查中，并提出了通用筛查的建议。基于新生儿筛查的初步发病率报告表明，ALD可能比以前描述的更为普遍。儿科内分泌学会已经发布了用ALD监测新生男性的指南，病例报告表明，婴儿早期可能存在生化肾上腺功能不全。同种异体造血干细胞移植和基因治疗已有效地阻止了脑ALD的发展。发明内容对ALD的进展进行早期诊断和监测可以预防肾上腺危机并治疗该疾病的大脑形式。随着新生儿筛查不仅有助于早期发现和治疗ALD，而且扩展了我们对ALD自然史的认识，最初的监测指导方针可能会发展。发明内容对ALD的进展进行早期诊断和监测可以预防肾上腺危机并治疗该疾病的大脑形式。随着新生儿筛查不仅有助于早期发现和治疗ALD，而且扩展了我们对ALD自然史的认识，最初的监测指导方针可能会发展。发明内容对ALD的进展进行早期诊断和监测可以预防肾上腺危机并治疗该疾病的大脑形式。由于新生儿筛查不仅有助于ALD的早期发现和治疗干预，而且扩展了我们对ALD的自然史的认识，因此有关监视的初始指南可能会不断发展。