Abstract
In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, alpha-oxidation and beta-oxidation; the latter pathway can also handle omega-oxidized compounds. Some oxidation products are crucial to human health (primary bile acids and polyunsaturated FAs), whereas other substrates have to be degraded in order to avoid neuropathology at a later age (very long-chain FAs and xenobiotic phytanic acid and pristanic acid). Whereas total absence of peroxisomes is lethal, single peroxisomal protein deficiencies can present with a mild or severe phenotype and are more informative to understand the pathogenic factors. The currently known single protein deficiencies equal about one-fourth of the number of proteins involved in peroxisomal FA metabolism. The biochemical properties of these proteins are highlighted, followed by an overview of the known diseases.
Highlights
In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, ␣-oxidation and -oxidation; the latter pathway can handle -oxidized compounds
Lipophilic carboxylic acids, peroxisomes are required for the degradation of very long-chain (VLC) FAs (VLCFA), pristanic acid, and various other carboxylic acids and play an essential or important role in the formation of primary bile acids and PUFA
In addition to Zellweger syndrome (ZS) and related disorders, other diseases have been linked to peroxisomes, notably X-linked adrenoleukodystrophy (X-ALD) and Refsum disease (Table 1)
Summary
N malabsorption and cholestasis; adultonset sensorimotor neuropathy (pigmentary retinopathy; demyelinating polyneuropathy). Neonatal hypotonia; seizures; macrocephaly; visual impairment, severe psychomotor retardation, and characteristic facial dysmorphias. Caseous and desquamating skin; hyperkeratosis; respiratory complications; eosinophilia. Abnormal فÒ brain development, optic atrophy and hypoplasia, persistent lactic acidemia
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
