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High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

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.

SUBMITTER: Berendse K

PROVIDER: S-EPMC4164755 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Berendse Kevin K Engelen Marc M Linthorst Gabor E GE van Trotsenburg A S Paul AS Poll-The Bwee Tien BT

Orphanet journal of rare diseases 20140902

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 ...[more]

PMID: 25179809

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Cholic acid therapy in Zellweger spectrum disorders.

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Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders.

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A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders

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2011-07-02 | GSE30362 | GEO

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A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders

2011-07-02 | E-GEOD-30362 | biostudies-arrayexpress

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.

Project description:Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function. Peroxisomes are ubiquitous membrane-bound organelles involved in several important biochemical processes, notably lipid metabolism and the use of reactive oxygen species for detoxification. Using cultured cells, we systematically characterized the peroxisome assembly phenotypes associated with dsRNA-mediated knockdown of 14 predicted Drosophila homologs of PEX genes (encoding peroxins; required for peroxisome assembly and linked to peroxisome biogenesis disorders), and confirmed that at least 13 of them are required for normal peroxisome assembly. We also demonstrate the relevance of Drosophila as a genetic model for the early developmental defects associated with the human peroxisome biogenesis disorders. Mutation of the PEX1 gene is the most common cause of peroxisome biogenesis disorders and is one of the causes of the most severe form of the disease, Zellweger syndrome. Inherited mutations in Drosophila Pex1 correlate with reproducible defects during early development. Notably, Pex1 mutant larvae exhibit abnormalities that are analogous to those exhibited by Zellweger syndrome patients, including developmental delay, poor feeding, severe structural abnormalities in the peripheral and central nervous systems, and early death. Finally, microarray analysis defined several clusters of genes whose expression varied significantly between wild-type and mutant larvae, implicating peroxisomal function in neuronal development, innate immunity, lipid and protein metabolism, gamete formation, and meiosis.

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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

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