Disorders of peroxisome biogenesis. 1995

N Braverman, and G Dodt, and S J Gould, and D Valle
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

The peroxisome is a ubiquitous, subcellular organelle containing more than 50 matrix enzymes that participate in a diverse array of metabolic pathways. Failure to assemble normal peroxisomes is the cellular hallmark of Zellweger syndrome and other human disorders of peroxisome biogenesis. Identification of the genes required for peroxisome biogenesis is proceeding at a rapid pace helped immeasurably by work in other species, particularly various yeasts. The ultimate goals of this effort are to identify all of these genes and to understand how their protein products interact to produce normal appearing and functioning peroxisomes. Attainment of these goals will lead to a better understanding of the peroxisome biogenesis disorders, their pathophysiology and treatment.

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D018901 Peroxisomal Disorders A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. Adrenoleukodystrophy, Neonatal,Hyperpipecolic Acidemia,Adrenoleukodystrophy, Autosomal Neonatal Form,Adrenoleukodystrophy, Autosomal, Neonatal Form,Hyperpipecolatemia,Neonatal Adrenoleukodystrophy,Peroxisomal Dysfunction, General,Peroxisomal Dysfunction, Multiple,Peroxisomal Dysfunction, Single,Acidemia, Hyperpipecolic,Acidemias, Hyperpipecolic,Adrenoleukodystrophies, Neonatal,Dysfunction, General Peroxisomal,Dysfunction, Multiple Peroxisomal,Dysfunction, Single Peroxisomal,Dysfunctions, General Peroxisomal,Dysfunctions, Multiple Peroxisomal,Dysfunctions, Single Peroxisomal,General Peroxisomal Dysfunction,General Peroxisomal Dysfunctions,Hyperpipecolic Acidemias,Multiple Peroxisomal Dysfunction,Multiple Peroxisomal Dysfunctions,Neonatal Adrenoleukodystrophies,Peroxisomal Disorder,Peroxisomal Dysfunctions, General,Peroxisomal Dysfunctions, Multiple,Peroxisomal Dysfunctions, Single,Single Peroxisomal Dysfunction,Single Peroxisomal Dysfunctions

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