Infantile Refsum disease

Infantile Refsum disease
Other namesInfantile phytanic acid storage disease'[1]
Phytanic acid

Infantile Refsum disease (IRD) is a rare autosomal recessive[2] congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes.[3][4] IRD is associated with deficient phytanic acid catabolism, as is adult Refsum disease, but they are different disorders that should not be confused.[5]

  1. ^ Cite error: The named reference O266510 was invoked but never defined (see the help page).
  2. ^ Choksi, V; Hoeffner, E; Karaarslan, E; Yalcinkaya, C; Cakirer, S (2003). "Infantile refsum disease: case report". AJNR. American Journal of Neuroradiology. 24 (10): 2082–4. PMC 8148918. PMID 14625237.
  3. ^ Steinberg SJ, Raymond GV, Braverman NE, et al. (2020). Adam MP, Ardinger HH, Pagon RA, et al. (eds.). "Zellweger Spectrum Disorder". GeneReviews® [Internet]. University of Washington. PMID 20301621. NBK1448.
  4. ^ Krause, C.; Rosewich, H.; Gärtner, J. (2009). "Rational diagnostic strategy for Zellweger syndrome spectrum patients". European Journal of Human Genetics. 17 (6): 741–8. doi:10.1038/ejhg.2008.252. PMC 2947092. PMID 19142205.
  5. ^ Online Mendelian Inheritance in Man (OMIM): Refsum Disease, Classic - 266500
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