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Peroxisomal Disorders: Symptoms & Treatment

Instructor: Artem Cheprasov

Artem has a doctor of veterinary medicine degree.

This lesson is going to go over the numerous signs that can be seen in many different types of peroxisomal disorders. You'll also learn about some potential treatment options for them.

What Is A Peroxisomal Disorder?

Imagine you were tasked with breaking down a potentially toxic substance in the city's water but you couldn't. That potentially toxic substance would then travel all over the city and harm whatever it comes into contact with.

Well, in a group of disorders, called peroxisomal disorders, something similar happens. Cellular structures, called peroxisomes, are unable to break down and transform numerous substances, like very long chain fatty acids. Some of these substances can then travel around the body and damage the structures they accumulate in, like the brain. This results in numerous neurological abnormalities seen in these disorder. This, of course, is just the basic gist of peroxisomal disorders.

In this lesson, we're going to go over the numerous signs (neurological and otherwise) a person with a peroxisomal disorders may have as well as potential treatment options.

Signs of Peroxisomal Disorder

There are many different kinds of peroxisomal disorders. Let's go over some of them and the signs a doctor might spot in each.

Three of the disorders are expressions of a disease continuum. In other words, they have overlapping clinical features as well as biochemical problems. Collectively, they are known as the Zellweger spectrum or Zellweger syndrome spectrum. From most to least severe they are:

  • Zellweger syndrome. Among many other problems, people with this disorder have abnormal facial features, seizures, liver abnormalities, and 'floppiness' to their muscles which could mean they are unable to even hold their own head up.
  • Neonatal adrenoleukodystrophy. This leads to the decreased size of the person's adrenal glands, which sit right next to the kidneys and produce numerous important hormones. Milder versions of the abnormalities seen in Zellweger syndrome can be found in this disorder as well.
  • Infantile Refsum disease. Abnormalities seen in this disorder include: deafness, mental disability, a short stature, and vision problems.

Other peroxisomal disorders include:

  • Rhizomelic chondrodysplasia punctata, where people may have facial abnormalities, short limbs, cataracts, scaly skin, and small nostrils.
  • X-linked adrenoleukodystrophy, signs of which include attention deficit and more severe behavioral problems, dementia, problems with vision, and hearing and death within 2-3 years after diagnosis.
  • Classic Refsum disease, where people will have vision and hearing defects, heart problems, scaly skin, and nerve issues.

Treatment

Because some pathophysiological differences exist between these disorders, there is no one treatment that is helpful for all of them. As such, only after a doctor properly diagnoses the kind of disorder the person has, can treatment be started. None of the following treatments are cures. Instead, they help manage and sometimes partially reverse some of the complications of the disorder. Here are some example ones:

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