Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Molecular Genetics and Metabolism
Antonella PedutoJean-Marie Saudubray

Abstract

Peroxisomal disorders include a complex spectrum of diseases, characterized by a high heterogeneity from both the clinical and the biochemical points of view. Specific assays are required for the study of peroxisome metabolism. Among these, pipecolic acid evaluation is considered as a supplementary test. We have established the diagnostic role of pipecolic acid in 30 patients affected by a peroxisomal defect (5 Zellweger syndromes, 10 Infantile Refsum diseases, 1 neonatal adrenoleukodystrophy, 6 patients affected by a peroxisomal biogenesis disorder with unclassified phenotype, 1 case of rhizomelic chondrodysplasia punctata (RCDP), 2 acyl-CoA oxidase deficiencies, 2 bifunctional enzyme deficiencies, 2 Refsum diseases, and 1 beta-oxidation deficiency). Pipecolic acid was increased in all generalized peroxisomal disorders, while normal pipecolic acid with abnormal very long chain fatty acid concentrations was strong evidence for a single peroxisomal enzyme deficiency. Unexpectedly, hyperpipecolic acidaemia was found also in a child affected by RCDP and in two patients with Refsum disease. In six patients the suggestion of a peroxisomal disorder was raised by the fortuitous finding of a pipecolic acid peak in amino acid chromatogr...Continue Reading

References

Mar 16, 1990·Biochemical and Biophysical Research Communications·P A Watkins, S J Mihalik
Apr 1, 1986·Neurochemical Research·A K Charles
Oct 11, 1967·Biochemical and Biophysical Research Communications·K HigashinoT Yamamura
Feb 1, 1971·Archives of Biochemistry and Biophysics·K HigashinoY Yamamura
Jun 4, 1971·Brain Research·P D Gatfield, E Taller
Jul 26, 1965·Biochemical and Biophysical Research Communications·K HigashinoI Lieberman
Nov 1, 1980·Neurochemical Research·Y NomuraE Giacobini
Sep 1, 1995·Journal of Neuropathology and Experimental Neurology·R J WandersP G Barth
Jan 1, 1993·Chirality·D W ArmstrongN Ercal
Jan 1, 1993·Biochimie·H van den BoschR B Schutgens
Jan 1, 1996·Journal of Inherited Metabolic Disease·C VallatH Mion
Mar 7, 1997·The Journal of Biological Chemistry·B E ReuberG Dodt
Jan 1, 1995·Journal of Inherited Metabolic Disease·F Poggi-TravertJ M Saudubray
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersP Mooijer
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersB S Jacobs
Jan 1, 1995·Journal of Inherited Metabolic Disease·M Espeel, G Van Limbergen
Jan 1, 1995·Journal of Inherited Metabolic Disease·F RoelsG De Pestel
Jan 1, 1995·Journal of Inherited Metabolic Disease·I KerckaertG Van Limbergen
Feb 1, 1997·Molecular and Cellular Biochemistry·I Singh
Nov 18, 1998·Annals of Neurology·M R BaumgartnerJ M Saudubray
Oct 6, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·T FujitaK Higashino
Oct 6, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·T FujitaK Higashino
Nov 26, 1999·Journal of Child Neurology·M PinedaT Pampols
Jan 13, 2000·Annals of Neurology·M R BaumgartnerJ M Saudubray
Apr 25, 2000·Biochemical and Biophysical Research Communications·L IJlstR J Wanders
Jul 25, 2000·Trends in Genetics : TIG·S J Gould, D Valle
Aug 11, 2000·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Y MatsudaK Higashino

❮ Previous
Next ❯

Citations

Mar 10, 2012·Journal of Inherited Metabolic Disease·Philippa B MillsEduard A Struys
Jun 18, 2010·Brain : a Journal of Neurology·Philippa B MillsPeter T Clayton
Feb 24, 2016·La Presse médicale·Leonardo AstudilloThierry Levade
Mar 5, 2016·Journal of Inherited Metabolic Disease·Sacha FerdinandusseRonald J A Wanders
Nov 16, 2004·Molecular Genetics and Metabolism·Steven SteinbergNancy Braverman
Feb 3, 2015·Molecular Nutrition & Food Research·Thushanthi PereraGerd Bobe
Dec 22, 2016·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Yingqian CiMei Han
Jul 31, 2019·International Journal of Molecular Sciences·Celien LismontMarc Fransen
Dec 12, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Irene De BiaseUNKNOWN ACMG Laboratory Quality AssuranceCommittee
Jan 1, 2017·Expert Review of Endocrinology & Metabolism·Izabella Agostinho PenaClara D M Van Karnebeek
Sep 1, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Malena Daich VarelaRobert B Hufnagel
Aug 10, 2020·Molecular Genetics and Metabolism·João Leandro, Sander M Houten
Mar 26, 2014·Pediatrics·Shailly Jain-GhaiSaadet Mercimek-Mahmutoglu

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.