Zellweger Spectrum Disorders
NORD gratefully acknowledges Mousumi Bose, PhD, Medical/Scientific Liaison, Mid-Atlantic Regional Coordinator, The Global Foundation for Peroxisomal Disorders and Steven J. Steinberg, PhD, FACMG, Assistant Professor, Department of Neurology and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, for the preparation of this report.
Synonyms of Zellweger Spectrum Disorders
- Peroxisomal Biogenesis Disorders
- Zellweger Syndrome Spectrum
Subdivisions of Zellweger Spectrum Disorders
- Hyperpipecolic acidemia
- Infantile Refsum Disease
- Neonatal Adrenoleukodystrophy
- Zellweger Syndrome
Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form. Zellweger spectrum disorders can affect most organs of the body. Neurological deficits, loss of muscle tone (hypotonia), hearing loss, vision problems, liver dysfunction, and kidney abnormalities are common findings. Zellweger spectrum disorders often result in severe, life-threatening complications early during infancy. Some individuals with milder forms have lived into adulthood. Zellweger spectrum disorders are inherited as autosomal recessive traits. Zellweger spectrum disorders are also known as peroxisome biogenesis disorders (PBDs) - a group of disorders characterized by the failure of the body to produce peroxisomes that function properly. Peroxisomes are very small, membrane-bound structures within the gel-like fluid (cytoplasm) of cells that play a vital role in numerous biochemical processes in the body. PBDs are subdivided into the three Zellweger spectrum disorders and rhizomelic chondrodysplasia punctata.
Zellweger syndrome was described in the medical literature in 1964 by Dr. Hans Zellweger. Neonatal adrenoleukodystrophy and infantile Refsum disease were described later. As the molecular and biochemical understanding of these disorders improved, it became apparent that they represented variants of one disorder and some researchers started using the term “Zellweger spectrum disorder” to describe these disorders. A fourth disorder known as hyperpipecolic acidemia is also considered part of this spectrum.
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