Creatine and its metabolites

Eduard A. Struys; Nanda Verhoeven-Duif; Cornelis Jakobs

doi:10.1007/978-3-540-76698-8_32

Creatine and its metabolites

Eduard A. Struys, Nanda Verhoeven-Duif, Cornelis Jakobs

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Abstract

Guanidinoacetate (GA), Creatine (Cr), and creatinine are small polar molecules. It is well recognized that Cr plays an important role in energy transmission and storage in cells and tissues with high energy demand. Recent developments have revealed alteration in the levels of the above-mentioned metabolites in different disease states, i.e. guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidino transferase (AGAT) deficiency and Cr transporter (SLC6A8) deficiency. This group of diseases is referred to as creatine deficiency syndromes (CDS) and can be detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain. Quantification of GA and Cr in body fluids forms the biochemical basis for the (differential) diagnosis of the CDS. This current chapter describes a detailed procedure for the simultaneous measurement of GA and Cr in urine, plasma, and cerebrospinal fluid employing Stable-Isotope Dilution Gas Chromatography-Mass Spectrometry. In addition, recent analytical developments using tandem mass spectrometry for the measurement of GA and Cr are briefly discussed.

Original language	English
Title of host publication	Laboratory Guide to the Methods in Biochemical Genetics
Publisher	Springer Berlin Heidelberg
Pages	739-749
Number of pages	11
ISBN (Print)	9783540766971
DOIs	https://doi.org/10.1007/978-3-540-76698-8_32
Publication status	Published - 1 Dec 2008

Access to Document

10.1007/978-3-540-76698-8_32

Cite this

@inbook{8d33720915b54732a3aa330d950fb59b,

title = "Creatine and its metabolites",

abstract = "Guanidinoacetate (GA), Creatine (Cr), and creatinine are small polar molecules. It is well recognized that Cr plays an important role in energy transmission and storage in cells and tissues with high energy demand. Recent developments have revealed alteration in the levels of the above-mentioned metabolites in different disease states, i.e. guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidino transferase (AGAT) deficiency and Cr transporter (SLC6A8) deficiency. This group of diseases is referred to as creatine deficiency syndromes (CDS) and can be detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain. Quantification of GA and Cr in body fluids forms the biochemical basis for the (differential) diagnosis of the CDS. This current chapter describes a detailed procedure for the simultaneous measurement of GA and Cr in urine, plasma, and cerebrospinal fluid employing Stable-Isotope Dilution Gas Chromatography-Mass Spectrometry. In addition, recent analytical developments using tandem mass spectrometry for the measurement of GA and Cr are briefly discussed.",

author = "Struys, {Eduard A.} and Nanda Verhoeven-Duif and Cornelis Jakobs",

year = "2008",

month = dec,

day = "1",

doi = "10.1007/978-3-540-76698-8_32",

language = "English",

isbn = "9783540766971",

pages = "739--749",

booktitle = "Laboratory Guide to the Methods in Biochemical Genetics",

publisher = "Springer Berlin Heidelberg",

}

TY - CHAP

T1 - Creatine and its metabolites

AU - Struys, Eduard A.

AU - Verhoeven-Duif, Nanda

AU - Jakobs, Cornelis

PY - 2008/12/1

Y1 - 2008/12/1

N2 - Guanidinoacetate (GA), Creatine (Cr), and creatinine are small polar molecules. It is well recognized that Cr plays an important role in energy transmission and storage in cells and tissues with high energy demand. Recent developments have revealed alteration in the levels of the above-mentioned metabolites in different disease states, i.e. guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidino transferase (AGAT) deficiency and Cr transporter (SLC6A8) deficiency. This group of diseases is referred to as creatine deficiency syndromes (CDS) and can be detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain. Quantification of GA and Cr in body fluids forms the biochemical basis for the (differential) diagnosis of the CDS. This current chapter describes a detailed procedure for the simultaneous measurement of GA and Cr in urine, plasma, and cerebrospinal fluid employing Stable-Isotope Dilution Gas Chromatography-Mass Spectrometry. In addition, recent analytical developments using tandem mass spectrometry for the measurement of GA and Cr are briefly discussed.

AB - Guanidinoacetate (GA), Creatine (Cr), and creatinine are small polar molecules. It is well recognized that Cr plays an important role in energy transmission and storage in cells and tissues with high energy demand. Recent developments have revealed alteration in the levels of the above-mentioned metabolites in different disease states, i.e. guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidino transferase (AGAT) deficiency and Cr transporter (SLC6A8) deficiency. This group of diseases is referred to as creatine deficiency syndromes (CDS) and can be detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain. Quantification of GA and Cr in body fluids forms the biochemical basis for the (differential) diagnosis of the CDS. This current chapter describes a detailed procedure for the simultaneous measurement of GA and Cr in urine, plasma, and cerebrospinal fluid employing Stable-Isotope Dilution Gas Chromatography-Mass Spectrometry. In addition, recent analytical developments using tandem mass spectrometry for the measurement of GA and Cr are briefly discussed.

UR - http://www.scopus.com/inward/record.url?scp=84889856159&partnerID=8YFLogxK

U2 - 10.1007/978-3-540-76698-8_32

DO - 10.1007/978-3-540-76698-8_32

M3 - Chapter

AN - SCOPUS:84889856159

SN - 9783540766971

SP - 739

EP - 749

BT - Laboratory Guide to the Methods in Biochemical Genetics

PB - Springer Berlin Heidelberg

ER -

Creatine and its metabolites

Abstract

Access to Document

Other files and links

Fingerprint

Cite this