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Peroxisomal Disorders (Peroxisomal Disorder)

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.
Also Known As:
Peroxisomal Disorder; 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 Dysfunctions, General; Peroxisomal Dysfunctions, Multiple; Peroxisomal Dysfunctions, Single; Single Peroxisomal Dysfunction; Single Peroxisomal Dysfunctions; Adrenoleukodystrophy, Neonatal; Hyperpipecolic Acidemia
Networked: 504 relevant articles (5 outcomes, 31 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Zellweger Syndrome (Zellweger's Syndrome)
2. Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
3. Peroxisomal Disorders (Peroxisomal Disorder)
4. Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
5. Ichthyosis (Xeroderma)

Experts

1. Wanders, Ronald J A: 20 articles (01/2020 - 02/2003)
2. Ferdinandusse, Sacha: 13 articles (01/2020 - 08/2003)
3. Waterham, Hans R: 13 articles (01/2020 - 02/2003)
4. Shimozawa, Nobuyuki: 8 articles (01/2022 - 10/2003)
5. Wajner, Moacir: 8 articles (05/2016 - 09/2006)
6. Baes, Myriam: 6 articles (04/2021 - 01/2004)
7. Berger, Johannes: 6 articles (01/2017 - 06/2012)
8. Engelen, Marc: 5 articles (01/2021 - 02/2012)
9. Vaz, Frédéric M: 5 articles (01/2020 - 01/2017)
10. Busanello, Estela Natacha Brandt: 5 articles (06/2013 - 09/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Peroxisomal Disorders:
1. Fatty Acids (Saturated Fatty Acids)IBA
2. EnzymesIBA
3. Proteins (Proteins, Gene)FDA Link
4. alkylglycerone-phosphate synthaseIBA
5. Phytanic AcidIBA
6. pristanic acidIBA
7. PlasmalogensIBA
8. pipecolic acidIBA
9. CatalaseIBA
10. Biomarkers (Surrogate Marker)IBA

Therapies and Procedures

1. Therapeutics
2. Ketogenic Diet
3. Cell Transplantation
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Drug Therapy (Chemotherapy)