Table 6.

Treatment of Manifestations in Individuals with Zellweger Spectrum Disorder

Manifestation/
Concern		TreatmentConsiderations/Other
Feeding &
nutrition
  • Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.
  • No specific metabolic diet recommended 1
W/many children having some degree of malabsorption, elemental formulas may be better tolerated.
Hearing Hearing aids in children found to have hearing impairmentSee also Hereditary Hearing Loss and Deafness Overview for discussion of management issues.
Vision
impairment
  • Cataract removal to preserve vision
  • Glasses to correct refractive errors
Liver
dysfunction
  • Supplementation of vitamin K & other fat-soluble vitamins
  • CholbamTM (cholic acid) supplementation 2
  • Varices can be treated w/sclerosing therapies.
Cholic acid supplementation can worsen liver disease in individuals with preexisting fibrosis & advanced liver disease [Berendse et al 2016].
Seizures Standard treatment w/ASM by experienced neurologistNo type of ASM is contraindicated. Seizures may be difficult to control despite use of appropriate medication.
DD/ID Provide early-intervention services.
Adrenal
insufficiency 		Adrenal replacement therapy
Osteopenia
  • Vitamin D supplementation
  • Consider bisphosphonate.
Benefits of bisphosphonate treatment noted in 1 case report [Rush et al 2016]
Ameliogenesis
imperfecta 		Treatment per dentistTran et al [2011], Acharya et al [2012]
Renal oxalate
stones 		Supportive treatment has included hydration, lithotripsy, surgical intervention.Pyridoxine treatment did not ↓ oxalate excretion in 1 study [van Woerden et al 2006].
Vaccination Annual influenza & respiratory syncytial virus vaccines as well as usual vaccination schedule

ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability

1.

A diet low in phytanic acid has been proposed, based mainly on the weak analogy with adult Refsum disease, in which accumulation of phytanic acid is pathogenic and treatment involves restricted dietary intake of phytanic acid (including avoidance of full-fat cow's milk products and high-fat meat products from ruminants). Its effectiveness in ZSD has never been proven. All standard infant formulas are already low in phytanic acid.

2.

By providing the final C24 bile acid product, the bile acid pathway undergoes feedback inhibition, thus reducing the levels of elevated C27 bile acid intermediates that are thought to be toxic to the liver. Cholic acid therapy does in fact decrease C27 bile acid intermediates (which should be measured), but its clinical effect in ZSD is not yet known.

From: Zellweger Spectrum Disorder

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