[Peroxisomal disorders].

Abstract

Peroxisomes are multifunctional microorganelles that play a key role in numerous biochemical processes adapting dynamically to the current physiological requirements of the cell. The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the peroxisomal disorders. The β-oxidation process of very long-chain fatty acids (VLCFA) is a unique metabolic pathway located exclusively in the peroxisome. This determines that VLCFA is the main biomarker for the diagnosis of peroxisomal diseases. Peroxisomal disorders present a broad spectrum of clinical symptoms from the neonatal, severe Zellweger syndrome with dysmorphia, multi-organ dysfunction to the late symptomatic adult form of X-linked adrenoleukodystrophy. Relatively common the use of highly specialized analytical techniques causes it is a still growing group of rare metabolic diseases.

• Authors: Tresa J Stradomska
• Journal: Postepy biochemii (Postepy Biochem) Vol. 64 Issue 4 Pg. 359-367 (Dec 29 2018) ISSN: 0032-5422 [Print] Poland
• Vernacular Title: Choroby peroksysomalne.
• PMID: 30656921 (Publication Type: Journal Article, Review)

Chemical References

• Fatty Acids

Topics

• Adrenoleukodystrophy (metabolism, pathology)
• Fatty Acids (metabolism)
• Humans
• Oxidation-Reduction
• Peroxisomal Disorders (metabolism, pathology)
• Peroxisomes (metabolism, pathology)
• Zellweger Syndrome (metabolism, pathology)