Zellweger’s Syndrome

Zellweger syndrome, also known as Zellweger spectrum disorder (ZSD), is a rare and severe inherited disorder that falls under the category of peroxisomal biogenesis disorders. It is characterized by the dysfunction or absence of peroxisomes, which are cellular organelles involved in various metabolic processes.

  1. Genetics: Zellweger syndrome is an autosomal recessive disorder, meaning that an affected individual inherits two copies of a mutated gene (one from each parent). The most common genes associated with Zellweger syndrome are related to peroxisome assembly, such as PEX1, PEX2, PEX3, and others.

  2. Peroxisomal Dysfunction: Peroxisomes play a crucial role in lipid metabolism and the breakdown of certain toxic substances. In Zellweger syndrome, the absence or dysfunction of peroxisomes leads to the accumulation of substances that are normally processed by these organelles.

  3. Clinical Features:

    • Neurological Abnormalities: Infants with Zellweger syndrome typically present with severe neurological abnormalities, including hypotonia (weak muscle tone), seizures, and developmental delays.
    • Facial Features: Characteristic facial features may include a high forehead, large fontanelle (soft spot), and a flat midface.
    • Organ Involvement: Other organs, such as the liver, kidneys, and heart, may also be affected, leading to organ dysfunction.

  4. Prognosis: Zellweger syndrome is a life-limiting condition, and most affected individuals do not survive past the first year of life. The severity of symptoms can vary, but the disorder generally has a profound impact on the quality of life.

  5. Diagnosis: Diagnosis is typically based on clinical features, biochemical testing, and genetic testing to identify mutations in the relevant genes. Prenatal testing may also be available for families at risk.

  6. Treatment: Unfortunately, there is no cure for Zellweger syndrome. Management is mainly supportive and aims to address specific symptoms. This may include interventions to manage seizures, respiratory support, and nutritional support.

Given the severity of Zellweger syndrome, individuals and families affected by this disorder often require comprehensive medical and psychosocial support.




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