Liver dysfunction is nearly universal in Zellweger spectrum disorders1

ZELLWEGER SPECTRUM DISORDERS

Zellweger spectrum disorders are characterized by defective peroxisome biogenesis and multiorgan manifestations.1

LIVER INVOLVEMENT

Regardless of disease severity, liver dysfunction is a common consequence of Zellweger spectrum disorders, but it may be treatable.1


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MULTISYSTEMIC COMPLICATIONS OF ZELLWEGER SPECTRUM DISORDERS

Zellweger spectrum disorders are multiorgan diseases that occur in approximately 1 in 50,000 live births. Zellweger spectrum disorders range from severe (Zellweger syndrome), to intermediate (neonatal adrenoleukodystrophy), to least severe (infantile Refsum disease) phenotypes, and can lead to multisystemic complications that vary based on disease severity.1

HEPATIC
HEPATIC

Liver dysfunction is a common consequence of Zellweger spectrum disorders, yet the liver may not be monitored.1,2 Nearly 80% of patients with Zellweger syndrome develop hepatomegaly with severe fibrosis as the disease progresses.3 In some cases of Zellweger spectrum disorders, liver dysfunction can be less severe or manifest later in life, pointing to the importance of routine liver monitoring.1,2,4,5

FAILURE TO THRIVE
FAILURE TO THRIVE

Bile acids break down fat-soluble vitamins, aiding in their absorption.6 When bile acids are deficient, fat-soluble vitamins are not absorbed properly, often resulting in delayed growth.1

HEARING
HEARING

Individuals with Zellweger spectrum disorders frequently have hearing loss.1

VISION
VISION

Retinal dystrophy and optic nerve pathology often lead to vision loss.1

CENTRAL AND PERIPHERAL NERVOUS SYSTEMS
CENTRAL AND PERIPHERAL NERVOUS SYSTEMS

Nervous system involvement can cause dysfunction in cognition, behavior, and motor abilities.1

SKELETAL AND DENTAL
SKELETAL AND DENTAL

Bone and dental abnormalities are often present.1

ADRENAL INSUFFICIENCY
ADRENAL INSUFFICIENCY

Progressive adrenal insufficiency can occur in Zellweger spectrum disorders.1

RENAL
RENAL

Renal dysfunction affects children with Zellweger spectrum disorders.1

COGNITIVE / INTELLECTUAL DEVELOPMENT
COGNITIVE / INTELLECTUAL DEVELOPMENT

Central nervous system dysfunction can result in intellectual developmental delay.1

Many aspects of Zellweger spectrum disorders are challenging to control. Liver complications, however, can be managed.1,5

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References:  1. Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-321. doi:10.1016/j.ymgme.2015.12.009.  2. Berendse K, Engelen M, Ferdinandusse S, et al. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis. 2016;39(1):93-106. doi:10.1007/s10545-015-9880-2.  3. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM. Peroxisomal disorders in neurology. J Neurol Sci. 1988;88:1-39.  4. Baes M, Van Veldhoven PP. Hepatic dysfunction in peroxisomal disorders. Biochim Biophys Acta. 2016;1863(5):956-970. doi:10.1016/j.bbamcr.2015.09.035.  5. Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015;10:151. doi:10.1186/s13023-015-0368-9.  6. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011;34(3):593-604. doi:10.1007/s10545-010-9259-3.