ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Lipidomic Signatures in Pediatric Metabolic Disorders.Metabolites · 2025Review
- Synthesis of stable isotope labeled analogs of phytanic acid for separate and combined tracing of alpha-, beta- and omega-oxidation.bioRxiv : the preprint server for biology · 2025Article
- Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause.Molecular genetics and metabolism reports · 2025Article
- Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.International journal of neonatal screening · 2023Article
- Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.Molecular genetics and metabolism · 2023Article
- An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.European journal of human genetics : EJHG · 2022Article
- NovelLife science alliance · 2022Article
- A unique Levey-Jennings control chart used for internal quality control in human papillomavirus detection.Virology journal · 2022Article
- Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy.Molecular genetics and metabolism reports · 2021Article
- Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A novel use for Levey-Jennings charts in prenatal molecular diagnosis.BMC medical genomics · 2020Article
- Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.International journal of molecular sciences · 2020Review
- Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Advances in experimental medicine and biology · 2020Article
- 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peroxisomal disorders are a clinically and genetically heterogeneous group of diseases caused by defects in peroxisomal biogenesis or function, usually impairing several metabolic pathways. Peroxisomal disorders are rare; however, the incidence may be underestimated due to the broad spectrum of clinical presentations. The inclusion of X-linked adrenoleukodystrophy to the Recommended Uniform Screening Panel for newborn screening programs in the United States may increase detection of this and other peroxisomal disorders. The current diagnostic approach relies heavily on biochemical genetic tests measuring peroxisomal metabolites, including very long-chain and branched-chain fatty acids in plasma and plasmalogens in red blood cells. Molecular testing can confirm biochemical findings and identify the specific genetic defect, usually utilizing a multiple-gene panel or exome/genome approach. When next-generation sequencing is used as a first-tier test, evaluation of peroxisome metabolism is often necessary to assess the significance of unknown variants and establish the extent of peroxisome dysfunction. This document provides a resource for laboratories developing and implementing clinical biochemical genetic testing for peroxisomal disorders, emphasizing technical considerations for sample collection, test performance, and result interpretation. Additionally, considerations on confirmatory molecular testing are discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.