Peroxisomes are organelles found within cells. They contain enzymes that break down certain substances like fatty acids, toxins, and by products of metabolism. If your cells are missing peroxisomes, that means your body won’t be able to properly break down these substances. If peroxisomes are missing or malfunctioning, there can be a build up of these fatty acids and toxins instead of being destroyed (Zellweger Spectrum Disorder: MedlinePlus Genetics, 2020). So what happens when too many of these fats and toxins accumulate?
When too many fats and toxins accumulate, they can damage your organs and prevent proper development. They’re generally called peroxisome disorders but the most common are usually listed as Zellweger spectrum disorders, a set of genetic disorders. The most severe is known as Zellweger Syndrome and is usually fatal by the first year after birth with relieving discomforts and providing comfort as the only treatment until such time. It’s notable for the flattened face, broad nasal bridge, high forehead, and widely spaced eyes, delayed growth, hearing, seeing, poor muscle control and malfunctioning liver and kidneys (Zellweger Spectrum Disorder: MedlinePlus Genetics, 2020). However, as this is a spectrum, there are intermediate and mild forms as well that are not as severe.
The presentation for intermediate and mild forms are similar but can go undetected until childhood. Once diagnosed, there are some treatments that can help with the various symptoms. Since it directly affects the body’s processing of very long chain fats, a diet reduced in those fats may be helpful as help breaking them down so that mitochondria can break what remains down instead. The protective sheaths around nerves is affected in this illness and seizures are common so anti-seizure measures can be helpful. The same holds true for some of the other symptoms such as hearing loss, blindness, poor muscle control which could be treated by standard means such as hearing aids, glasses and occupational and physical therapies as needed (Zellweger Spectrum Disorders, 2023). So long as the toxins are able to be removed by other means, a good quality of life is possible in mild and intermediate cases.
References:
Zellweger spectrum disorder: MedlinePlus Genetics. (2020). Medlineplus.gov. https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/Links to an external site.
Zellweger Spectrum Disorders. (2023, November 20). National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/
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