Mayo Clinic Laboratories > Genetics > Inborn errors of metabolism > Peroxisomal biogenesis and metabolism

Peroxisomal biogenesis and metabolism

Answers to guide care

Peroxisomal dysfunction can have a far-ranging impact and result in many diseases, including metabolic and neurodegenerative disorders.1 Variations in genes associated with peroxisomal function have been linked to peroxisomal biogenesis and metabolism disorders. 

These conditions include disorders of peroxisomal biogenesis with defective assembly of the entire organelle and single peroxisomal enzyme/transporter defects. In all peroxisomal biogenesis disorders and certain single enzyme deficiencies, particularly X-linked adrenoleukodystrophy (XALD), peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) is impaired. This results in elevated VLCFA concentrations in the blood.

Genetic testing can be used to confirm suspected peroxisomal disorder cases, identify the specific genetic variant, and resolve equivocal biochemical laboratory findings when disease presentations are ambiguous.2 Our comprehensive menu of genetic testing for peroxisomal disorders includes biochemical and molecular assays that can assist in the diagnosis and support treatment decisions. In addition, molecular genetic testing for these disorders is available through our custom gene ordering tool.

Peroxisomal biogenesis and metabolism disorder test menu

Peroxisomal biogenesis disorders Peroxisomal biogenesis disorders
X-linked adrenoleukodystrophy X-linked adrenoleukodystrophy
Custom gene panels Custom gene panels

Peroxisomal biogenesis disorders

This clinically and genetically diverse group of diseases is caused by defects in peroxisomal biogenesis or function. Several different metabolic pathways can be impaired and present with symptoms of:

  • Zellweger syndrome spectrum disorders, which are clinically diverse and range in severity from neonatal lethal (Zellweger syndrome) to more variable courses in neonatal adrenoleukodystrophy and infantile Refsum disease.
  • Rhizomelic chondrodysplasia punctata, which is characterized by rhizomelic limb shortening, chondrodysplasia punctata, cataracts, intellectual disability, and seizures.
  • Adult Refsum disease, an extremely rare condition characterized by loss of smell, retinitis pigmentosa, neuropathy, deafness, ataxia, ichthyosis, and cardiac abnormalities.

Biochemical testing

Molecular testing

X-linked adrenoleukodystrophy

Added to the U.S. Recommended Uniform Screening Panel in 2016, X-linked adrenoleukodystrophy (XALD) is a progressive neurologic disorder that affects white matter in the brain and adrenal cortex. The condition can present between ages 4 and 8 with behavioral and cognitive changes associated with neurologic decline. While the condition is X-linked and primarily affects males, some female patients who are carriers can develop neurologic manifestations later in life.

Biochemical testing

Molecular testing

Custom gene ordering

Key testing

References
  1. Han J, Zheng D, Liu PS, et al. Peroxisomal homeostasis in metabolic diseases and its implication in ferroptosis. Cell Commun Signal 22, 475 (2024). https://doi.org/10.1186/s12964-024-01862-w
  2. De Biase I, Tortorelli S, Kratz L, Steinberg S, Cusmano-Ozog K, Braverman N, on behalf of the ACMG Laboratory Quality Assurance Committee. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2020: 22;4. 686-697. ISSN 1098-3600. https://doi.org/10.1038/s41436-019-0713-9
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