Infantile Refsum disease
id:
infantile-refsum-disease-268-458842
title:
Infantile Refsum disease
text:
Infantile Refsum disease (IRD) is a rare autosomal recessive 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. IRD is associated with deficient phytanic acid catabolism, as is adult Refsum disease, but they are different disorders that should not be confused.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Infantile_Refsum_disease
date created:
date modified:
2023-08-28T18:50:46Z
main entity:
{"identifier":"Q55346072","url":"https://www.wikidata.org/entity/Q55346072"}
image:
fields total:
13
integrity:
14