"Peroxisomal Disorders" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D018901
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MeSH Number(s) |
C16.320.565.663 C18.452.648.663
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Concept/Terms |
Hyperpipecolic Acidemia- Hyperpipecolic Acidemia
- Acidemia, Hyperpipecolic
- Acidemias, Hyperpipecolic
- Hyperpipecolic Acidemias
- Hyperpipecolatemia
Peroxisomal Dysfunction, Multiple- Peroxisomal Dysfunction, Multiple
- Dysfunction, Multiple Peroxisomal
- Dysfunctions, Multiple Peroxisomal
- Multiple Peroxisomal Dysfunction
- Multiple Peroxisomal Dysfunctions
- Peroxisomal Dysfunctions, Multiple
Peroxisomal Dysfunction, Single- Peroxisomal Dysfunction, Single
- Dysfunction, Single Peroxisomal
- Dysfunctions, Single Peroxisomal
- Peroxisomal Dysfunctions, Single
- Single Peroxisomal Dysfunction
- Single Peroxisomal Dysfunctions
Adrenoleukodystrophy, Neonatal- Adrenoleukodystrophy, Neonatal
- Adrenoleukodystrophies, Neonatal
- Neonatal Adrenoleukodystrophies
- Adrenoleukodystrophy, Autosomal, Neonatal Form
- Neonatal Adrenoleukodystrophy
- Adrenoleukodystrophy, Autosomal Neonatal Form
Peroxisomal Dysfunction, General- Peroxisomal Dysfunction, General
- Dysfunction, General Peroxisomal
- Dysfunctions, General Peroxisomal
- General Peroxisomal Dysfunction
- General Peroxisomal Dysfunctions
- Peroxisomal Dysfunctions, General
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Below are MeSH descriptors whose meaning is more general than "Peroxisomal Disorders".
Below are MeSH descriptors whose meaning is more specific than "Peroxisomal Disorders".
This graph shows the total number of publications written about "Peroxisomal Disorders" by people in this website by year, and whether "Peroxisomal Disorders" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2010 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
2017 | 1 | 0 | 1 |
2018 | 2 | 0 | 2 |
2021 | 1 | 0 | 1 |
2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Peroxisomal Disorders" by people in Profiles.
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Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders. Mol Genet Metab. 2023 11; 140(3):107680.
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Clinical and Neuroimaging Features of Peroxisomal Disorders. Neuropediatrics. 2022 02; 53(1):75-77.
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Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases. Pediatr Clin North Am. 2018 04; 65(2):353-373.
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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283.
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Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. PLoS Genet. 2017 Jun; 13(6):e1006825.
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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar; 117(3):313-21.
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Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum. J Lipid Res. 2010 Jun; 51(6):1591-8.
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Peroxisomal proliferation induced by treatment with clofibrate in a patient with a peroxisomal disease. Cell Biochem Biophys. 2000; 32 Spring:329-32.