Peroxisomal Disorders
What Are Peroxisomal Disorders?
Peroxisomal disorders are a group of rare inherited conditions caused by mutations in genes associated with the peroxisome, an organelle found in human cells. These mutations result in the production of abnormal proteins and can disrupt normal peroxisome function, leading to a variety of symptoms ranging from vision loss and hearing impairment to seizures and learning disabilities. The most common peroxisomal disorders include: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).
Symptoms of Peroxisomal Disorders
The symptoms of peroxisomal disorders can vary widely from person to person, depending on the type of disorder and its severity. Common signs and symptoms associated with these conditions may include:
- Hearing loss or deafness
- Vision impairment or blindness
- Seizures
- Muscle weakness or paralysis
- Stunted growth
- Delayed developmental milestones
- Feeding difficulties
- Lethargy and sleep problems
- Intellectual disability
- Skin abnormalities such as scaling and redness
- Liver abnormalities, such as enlarged liver, fatty liver, and liver cirrhosis
Diagnosis
To diagnose a peroxisomal disorder, a doctor will take a careful medical history and perform a physical exam looking for signs of the condition. Additional tests may be ordered to confirm a diagnosis, such as urine and blood tests to check for abnormal levels of certain substances, genetic testing for specific gene mutations, or imaging studies to look for changes in the brain or organs. Treatment will depend on the type of disorder and its severity.
Treatment of Peroxisomal Disorders
At this time, there is no cure for peroxisomal disorders, and treatment focuses on managing symptoms and preventing complications. Treatments may include physical therapy to help improve muscle strength and coordination, speech therapy to help improve communication skills, and special education services to help children reach their full potential. In some cases, medication may be prescribed to help control seizures, and dietary changes may be recommended to help improve nutrition. In severe cases, a stem cell transplant may be recommended to help restore some or all of the lost functions.