From the Guidelines
The treatment for Zellweger syndrome should focus on supportive care with a multidisciplinary team of specialists, including nutritional support, seizure management, and developmental therapies, as there is no cure for this rare genetic disorder. The management of Zellweger syndrome, as with other lysosomal storage diseases (LSDs), combines disease-specific therapy with symptom-specific measures, as outlined in the study by 1. A team leader, generally a biochemical geneticist, should oversee the treatment, which includes other relevant medical specialists familiar with LSDs.
Key aspects of treatment include:
- Nutritional support with special formulas, such as those containing medium-chain triglycerides and docosahexaenoic acid (DHA) supplementation
- Seizure management with anticonvulsants
- Liver dysfunction treatment with ursodeoxycholic acid
- Developmental support through physical, occupational, and speech therapies
- Sensory impairment management with hearing aids and vision correction
Regular monitoring of liver function, blood counts, and developmental milestones is crucial, as noted in the study by 1. Although specific treatments for LSDs, including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), are evolving, these are not curative for Zellweger syndrome. The prognosis remains poor, with most affected children not surviving beyond their first year due to progressive neurological deterioration, liver failure, and other systemic complications.
From the Research
Treatment for Zellweger Syndrome
- The treatment for Zellweger syndrome involves restoring the DHA levels in the brain, retina, and other tissues, as patients with this syndrome have very low levels of docosahexaenoic acid (DHA) 2.
- Studies have shown that treatment with DHA ethyl ester, at daily doses of 100-500 mg, can improve the clinical course of the disease, with the most constant improvement being normalization of the DHA levels and liver function 2.
- Vision has improved in about half of the patients, and muscle tone has generally increased, with magnetic resonance imaging (MRI) examination revealing improvement of myelination in some patients 2.
- Early dietary treatments with Lorenzo's oil and docosahexaenoic acid have also been shown to be beneficial for neurological development in patients with Zellweger syndrome 3, 4.
- The use of a special infant formula supplemented with middle chain triglyceride (MCT) milk, docosahexaenoic acid (DHA), Lorenzo's oil, and Lunaria oil has been shown to improve delayed neurological development, liver dysfunction, and cholestasis in patients with Zellweger syndrome 3.
- Dietary administration of Lorenzo's oil has been shown to diminish plasma very-long-chain fatty acid (C26:0) levels, with earlier administration being more effective 4.
- DHA levels in the brains and livers of treated patients have been shown to be higher than in untreated patients, suggesting that early initiation of Lorenzo's oil and long-term administration of DHA may be useful for patients with Zellweger syndrome 4.
- While there is currently no curative therapy for Zellweger syndrome, supportive care is available, and prompt diagnosis is important for providing appropriate symptomatic care, definitive genetic testing, and counseling regarding family planning 5, 6.