PMID: 8598640Jan 1, 1995Paper

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency

Journal of Inherited Metabolic Disease
J L van HoveD S Millington

Abstract

A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hydroxy-C5-acylcarnitine. Fibroblasts from a second patient were incubated with deuterium-labelled leucine. Incorporation of label in the new acylcarnitine identified its origin from leucine, and thus confirmed the structure as 3-hydroxyisovalerylcarnitine. The presence of elevated amounts of this metabolite, plus a small amount of 3-methylcrotonylcarnitine in plasma, was diagnostic for isolated 3-methylcrotonyl-CoA carboxylase deficiency. Other conditions in which a hydroxy-C5-acylcarnitine was present were readily differentiated by the abnormal elevation of other acylcarnitines.

References

Jan 1, 1991·Journal of Inherited Metabolic Disease·M O RollandI Loras
Jul 1, 1989·The Journal of Pediatrics·M Y TsaiS A Berry
May 1, 1968·Biochimica Et Biophysica Acta·T Bohmer, J Bremer
Dec 1, 1984·The Journal of Clinical Investigation·C R RoeT P Bohan
Jan 1, 1995·Journal of Inherited Metabolic Disease·S L RutledgeD Millington
Jan 1, 1993·Journal of Inherited Metabolic Disease·R MatalonD Thorburn
Jan 13, 1995·The Journal of Biological Chemistry·M A NadaC R Roe
Aug 31, 1995·Clinica Chimica Acta; International Journal of Clinical Chemistry·W RöschingerL Sweetman

❮ Previous
Next ❯

Citations

May 31, 2012·Orphanet Journal of Rare Diseases·Sarah C GrünertMatthias R Baumgartner
Jun 1, 1997·Brain & Development·K MurayamaK Kodama
Jul 14, 2010·Molecular Genetics and Metabolism·Jeff EichhorstDenis C Lehotay
Jun 19, 2002·Seminars in Neonatology : SN·H Ogier de Baulny, J M Saudubray
Apr 8, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marzia PasqualiNicola Longo
Jan 30, 2020·Gut Microbes·Zongyu HuangXiaohui Xiong
Mar 8, 2007·Annals of Saudi Medicine·P T Ozand
Jul 23, 2003·Journal of Inherited Metabolic Disease·D D KoeberlD M Frazier

❮ 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.