Peroxisome Biogenesis Disorder

What is Peroxisome Biogenesis Disorder?

Also referred to as the Zellweger syndrome spectrum, this group of rare disorders have similar symptoms and all affect multiple parts of the body. The spectrum includes three syndromes which differ in the severity of their symptoms. Life expectancy with the most severe form of the condition is limited and many affected individuals do not survive infancy.

What gene changes cause Peroxisome Biogenesis Disorder?

There are at least 12 genes that can be responsible for causing the disorder.

The conditions are inherited in an autosomal recessive manner.

What are the main symptoms of Peroxisome Biogenesis Disorder?

The symptoms vary according to the type of the condition.

Zellweger syndrome: this is the most severe form of the disorder. It is usually identified when an infant is a newborn. Low muscle tone, feeding difficulties, hearing and vision loss, seizures, skeletal abnormalities and very distinct facial features are common symptoms of the syndrome. Generally infants with this form of the disorder do not survive the first year of life.

Neonatal Adrenoleukodystrophy (NALD): this is a more moderate form of the disorder. The main symptoms include low muscle tone, vision and or hearing loss, issues relating to the liver, as well as developmental delay and intellectual disability. Individuals usually survive into childhood with this form of the syndrome.

Infantile Refsum disease: the symptoms of this form are similar to those for NALD. In some cases individuals affected by this form of the disorder have been known to survive into adulthood.

How does someone get tested for Peroxisome Biogenesis Disorder?

The initial testing for Peroxisome Biogenesis Disorder can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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