WebDescription Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. WebDec 1, 2006 · Peroxisomes are indispensably involved as a central player in the metabolism of reactive oxygen species, bile acids, ether phospholipids, very-long-chain, and branched …

Peroxisomal disorder - Wikipedia

WebIndications for Peroxisomal Disease Screening: unusual facial features hypotonia shortened limbs stippled epiphyses enlarged liver cataracts seizures failure to thrive WebDisease Zellweger syndrome, also known as cerebro-hepato-renal syndrome, is a rare, autosomal recessive condition related to dysfunction of peroxisomes. Zellweger syndrome was first described in 1964 by Bowen et al with prominent ocular and extraocular manifestations. [1] unhide weather card windows 10

Peroxisomal dysfunction in neurodegenerative diseases

WebPeroxisomes are indispensable for human health and development. They represent ubiquitous subcellular organelles which compartmentalize enzymes responsible for … WebDec 1, 2006 · The importance of peroxisomes for human health and normal development is underlined by the existence of several inherited diseases in humans, so called peroxisomal disorders (Table (Table2) 2) (15-17). A defect in a peroxisomal gene can lead to a single enzyme deficiency which might affect one specific peroxisomal function or metabolic … unhide white space word