Abstract
Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndrome to patients with a relatively mild phenotype. Treatment options are limited to symptomatic and supportive therapy. During routine follow-up we discovered patients with asymptomatic primary adrenal insufficiency. It is important to detect impaired adrenal function because it has treatment implications. Primary adrenal insufficiency was found in 7/24 patients examined, with 4/7 being asymptomatic. Systematic evaluation of adrenal function, through a Synacthen test, should be included in the clinical management of these patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0133-5) contains supplementary material, which is available to authorized users.
Highlights
Peroxisomal disorders are a group of genetic disorders with impairment in one or more peroxisomal functions [1]
The peroxisomal disorders are divided into two major categories: (1) the peroxisome biogenesis disorders with multiple metabolic abnormalities (e.g. Zellweger spectrum disorders (ZSDs), OMIM #601539), and (2) the disorders with a deficiency of a single peroxisomal enzyme or transporter (e.g. X-linked adrenoleukodystrophy (X-ALD), OMIM #300100)
In 1984, Govaerts et al reported the occurrence of primary adrenal insufficiency in a small series of severe Zellweger syndrome (ZS) patients [6]
Summary
Peroxisomal disorders are a group of genetic disorders with impairment in one or more peroxisomal functions [1]. Adrenal insufficiency may occur in ZSD patients. * Correspondence: b.t.pollthe@amc.uva.nl 1Department of Paediatric Neurology, Emma Children’s Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands Full list of author information is available at the end of the article
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