Zellweger spectrum disorders: clinical overview and management approach

Orphanet Journal of Rare Diseases

Bwee Tien Poll-The²  Marc Engelen²  Ronald J. A. Wanders¹  Sacha Ferdinandusse¹  Kevin Berendse¹  Femke C. C. Klouwer¹ 

[1] Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;Department of Paediatric Neurology, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands

关键词: VLCFA;    Very long chain fatty acids;    PEX;    Heimler syndrome;    Infantile Refsum disease;    Neonatal adrenoleukodystrophy;    Zellweger syndrome;    PBD;    Peroxisome biogenesis disorder;    ZSD;    Zellweger spectrum disorder;   

Others  :  1234880
DOI  :  10.1186/s13023-015-0368-9

 received in 2015-10-19, accepted in 2015-11-22,  发布年份 2015

【 摘 要 】

Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.

【 授权许可】

   
2015 Klouwer et al.

【 图 表 】

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