Zellweger Syndrome

Overview

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Zellweger Syndrome

Topic type

Condition

Category

Urology / Fertility

MeSH classification

C06.552.970|C10.228.140.163.100.968|C12.050.351.968.419.978|C12.200.777.419.978|C12.950.419.978|C16.131.077.970|C16.320.565.189.968|C16.320.565.663.970|C18.452.132.100.968|C18.452.648.189.968|C18.452.648.663.970

Preparing for an appointment about Zellweger Syndrome

If you are speaking with a healthcare professional about Zellweger Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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