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peroxisomal diseases

MIM.601539

peroxisome-biogenesis disorders, peroxisome biogenesis disorders, peroxysomal disorders

 

Classification

The human disorders of peroxisome biogenesis (PBDs) are subdivided into 12 complementation groups (CGs).

-  Zellweger disease
-  neonatal adrenoleukodystrophy
-  Refsum disease
-  rhizomelic chondrodysplasia punctata type 1

-  CG8 is one of the more common of these and is associated with varying phenotypes, ranging from the most severe, Zellweger syndrome (ZS), to the milder neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).

See also

-  peroxisomes

Reverences

-  Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. PMID: #15679822#

-  Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet. 2004 May 1;126A(4):355-75. PMID: #15098234#

-  Gould SJ, Valle D. Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet. 2000 Aug;16(8):340-5. PMID: #10904262#

-  Braverman N, Dodt G, Gould SJ, Valle D. Disorders of peroxisome biogenesis. Hum Mol Genet. 1995;4 Spec No:1791-8. Review. PMID: #8541879#

-  MIM.601539
-  peroxisome.org


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