Know | Understanding PBD-ZSD
What do you need to know about your child’s peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD)? know

Defining PBD-ZSD

It is 1 disease, but it has a spectrum of severity

Until recently, PBD-ZSD was viewed as 3 separate diseases, but we now know it is a set of disorders that form a spectrum, or continuum, of 1 disease. This spectrum can range from mild (infantile Refsum disease, or IRD), to moderate (neonatal adrenoleukodystrophy, or NALD), to severe (Zellweger syndrome, or ZS).

These disorders are caused by a loss of function in important parts of your cells called “peroxisomes,” which can affect many parts of the body–from the eyes to the liver. Learn more about how it works here.

As a spectrum, PBD-ZSD will affect each patient differently. How the disorder affects patients depends on their age when PBD-ZSD symptoms first start to appear.

No matter where someone is on the PBD-ZSD spectrum, the impact is serious and lifelong, and it needs to be monitored consistently.

You are your child’s champion—know how their PBD-ZSD is affecting them

What to watch out for when your child has PBD-ZSD

How and when PBD-ZSD affects different parts of the body can vary widely

PBD-ZSD affects each person differently. Monitor your child for any changes to his/her symptoms, so you and your child’s healthcare team can provide timely care.

Not all changes to your child’s health can be easily noticed, so going to routine checkups with different specialists is very important

How do ZSDs affect different body systems and functions?

Being resourceful means having the right tools when you need them

No matter where your child is in her/his Zellweger spectrum disorder (ZSD) journey, there's going to be something more you need to know and do. Having the right resources can help you handle it.

Below are printable resources to help you initiate the conversations you need to have.

Effets on body

Learn more about the liver

Learn more detailed information about the liver and the role it plays in your child’s PBD-ZSD.

See it here

Effets on body

Does your child have a damaged liver?

This atypical bile acid test is an important way to see if your child’s liver is healthy. Ask your doctor to order this free test.

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Uncover the underlying
cause of PBD-ZSD

PBD-ZSD can be confusing and overwhelming, but having all the facts can empower you to best support your child or loved one.

Click through the slideshow below to learn how PBD-ZSD develops and what you can expect when caring for a child with this disease.