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Peroxisomal acyl-coA oxidase deficiency
Pseudoneonatal adrenoleukodystrophy
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Overview
Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency ({261515}), caused by mutation in the HSD17B4 gene ({601860}) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (see {601539}) ({9:Watkins et al., 1995}). Source: Online Mendelian Inheritance in Man
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Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
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Disease Resources
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ALD-AMN Route Map
A dedicated website for providing patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) a journey of their health and social care needs.
GENEReveiws article "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum"
This article by Steven J Steinberg, PhD, Gerald V Raymond, MD, Nancy E Braverman, MS, MD, and Ann B Moser, BA. was updated in May 2012 and is the most comprehensive English-language paper about this disorder.
Frequently Asked Questions about PBD-ZSD
Frequently Asked Questions about Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) compiled by the Global Foundation for Peroxisomal Disorders
Letter for Lab Directors
Letter for laboratories who diagnosis individuals impacted by PBD-ZSD.
Letter for Physicians
Letter for physicians who diagnosis/treat individuals impacted by PBD-ZSD.