What is Peroxisome Biogenesis Disorder?
Peroxisome Biogenesis Disorder is a rare disease, 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.
Syndrome Synonyms:
Cerebro-hepato-renal syndrome
What gene changes cause Peroxisome Biogenesis Disorder?
There are at least 27 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.
How is it diagnosed?
To find out if someone has a diagnosis of Peroxisome Biogenesis Disorder, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
