Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.

Journal of Inherited Metabolic Disease
Emma J FootittP B Mills

Abstract

Vitamin B(6) dependent seizure disorders are an important and treatable cause of childhood epilepsy. The molecular and biochemical basis for some of these disorders has only recently been elucidated and it is likely that inborn errors affecting other parts of this complex metabolic pathway are yet to be described. In man vitamin B(6) ingested from the diet exists as six different vitamers, pyridoxal (PL), pyridoxamine (PM), pyridoxine (PN), pyridoxal 5'-phosphate (PLP), pyridoxamine 5'- phosphate (PMP) and pyridoxine 5'-phosphate (PNP). Its breakdown product, 4-pyridoxic acid (PA), is excreted in urine. Here we describe an analytical LC-MS/MS method to measure all vitameric B(6) forms in plasma and have subsequently applied this methodology to investigate children with vitamin B(6) responsive seizure disorders. We show that patients with inborn errors of B(6) metabolism such as pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency have characteristic B(6) profiles which allow them to be differentiated from each other and control populations, even when on treatment with B(6). Regardless of diagnosis, patients on treatment doses of pyridoxine hydrochloride and pyridoxal phosphate have markedly elevated levels of some vitameric fo...Continue Reading

References

Jan 1, 1990·Annals of the New York Academy of Sciences·A H Merrill, J M Henderson
Jan 1, 1985·Neurochemical Pathology·A J Windebank
Feb 1, 1980·The Journal of Nutrition·J R WozenskiL T Miller
Jul 1, 1995·The American Journal of Clinical Nutrition·D W GiraudJ A Driskell
Mar 22, 2000·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·A HammenF Donati
Mar 10, 2001·Journal of Chromatography. B, Biomedical Sciences and Applications·C L DeitrickL Burrus
Jun 4, 2004·Genes & Development·Frédéric GachonUeli Schibler
Sep 28, 2004·The American Journal of Clinical Nutrition·Priscille G MasséJuliana Dosy
Oct 12, 2004·Experimental Neurology·Tracy Ann PerryNigel H Greig
Nov 24, 2004·Journal of Applied Toxicology : JAT·Seymour Levine, Arthur Saltzman
Apr 27, 2005·Archives of Disease in Childhood·H-S WangM-Y Chang
Jun 10, 2006·Journal of Inherited Metabolic Disease·Peter T Clayton
Jun 18, 2010·Brain : a Journal of Neurology·Philippa B MillsPeter T Clayton
Feb 10, 2011·Journal of Inherited Metabolic Disease·Emma J FootittPeter T Clayton

❮ Previous
Next ❯

Citations

Jan 24, 2013·PloS One·Monique AlbersenNanda M Verhoeven-Duif
Jul 22, 2015·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·J Efraim OosterinkHenk Schierbeek
Mar 20, 2014·Brain : a Journal of Neurology·Philippa B MillsPeter T Clayton
Mar 12, 2015·PloS One·Monique AlbersenNanda M Verhoeven-Duif
Feb 22, 2017·The Journal of Pharmacy and Pharmacology·Abeer H A Mohamed-AhmedCatherine Tuleu
Oct 20, 2017·Nature Protocols·Marta BatlloriRafael Artuch
Jan 24, 2019·Journal of Inherited Metabolic Disease·Matthew P WilsonPeter T Clayton
Jun 22, 2019·Journal of Inherited Metabolic Disease·Peter Theodore Clayton
Jul 2, 2019·Human Molecular Genetics·Wanhao ChiXiaoxi Zhuang
May 9, 2014·The American Journal of Clinical Nutrition·Monique AlbersenNanda M Verhoeven-Duif
Jun 28, 2016·Journal of Inherited Metabolic Disease·Déborah MathisBarbara Plecko
Jan 1, 2017·Expert Review of Endocrinology & Metabolism·Izabella Agostinho PenaClara D M Van Karnebeek
Nov 26, 2013·Developmental Medicine and Child Neurology·Tyson L WareJeremy L Freeman
Jun 13, 2019·Annals of Neurology·Viorica ChelbanUNKNOWN Care4Rare Canada Consortium and the SYNaPS Study Group
Oct 25, 2017·Genetics·Izabella A PenaAlex MacKenzie
Nov 25, 2019·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Jolita CiapaiteNanda M Verhoeven-Duif
Aug 6, 2017·Clinica Chimica Acta; International Journal of Clinical Chemistry·Tomoyuki AkiyamaKatsuhiro Kobayashi

❮ 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.