Синдром Целлвегера

Overview

Zellweger Syndrome is a rare genetic condition that affects the body’s ability to produce peroxisomes, which are essential for normal cellular function and metabolism.

It is part of a group of disorders known as Zellweger spectrum disorders and primarily affects newborns, leading to severe developmental and organ abnormalities.

Types of Zellweger Syndrome Disease

• Zellweger Syndrome (Severe Form): Most serious, early onset
• Neonatal Adrenoleukodystrophy (NALD): Intermediate severity
• Infantile Refsum Disease (IRD): Milder form

Symptoms of Zellweger Syndrome

• Poor muscle tone (hypotonia)
• Feeding difficulties
• Seizures
• Developmental delay
• Distinct facial features
• Liver enlargement
• Vision and hearing problems

Causes of Zellweger Syndrome

• Genetic mutations in PEX genes
• Defective peroxisome formation
• Autosomal recessive inheritance
• Abnormal metabolic processes

Complications of Zellweger Syndrome

• Severe neurological impairment
• Liver dysfunction
• Respiratory issues
• Vision and hearing loss
• Growth failure

Risk Factors of Zellweger Syndrome

• Family history of genetic disorders
• Autosomal recessive inheritance (both parents carriers)

Prevention of Zellweger Syndrome

• Genetic counseling
• Carrier screening
• Prenatal diagnosis in high-risk families