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 | |
Publication status | Published - 1 Dec 2008 |
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Struys, E. A., Verhoeven-Duif, N., & Jakobs, C. (2008). Creatine and its metabolites. In Laboratory Guide to the Methods in Biochemical Genetics (pp. 739-749). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_32
Struys, Eduard A. ; Verhoeven-Duif, Nanda ; Jakobs, Cornelis. / Creatine and its metabolites. Laboratory Guide to the Methods in Biochemical Genetics. Springer Berlin Heidelberg, 2008. pp. 739-749
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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",
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Struys, EA, Verhoeven-Duif, N & Jakobs, C 2008, Creatine and its metabolites. in Laboratory Guide to the Methods in Biochemical Genetics. Springer Berlin Heidelberg, pp. 739-749. https://doi.org/10.1007/978-3-540-76698-8_32
Creatine and its metabolites. / Struys, Eduard A.; Verhoeven-Duif, Nanda; Jakobs, Cornelis.
Laboratory Guide to the Methods in Biochemical Genetics. Springer Berlin Heidelberg, 2008. p. 739-749.
Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
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T1 - Creatine and its metabolites
AU - Struys, Eduard A.
AU - Verhoeven-Duif, Nanda
AU - Jakobs, Cornelis
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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.
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Struys EA, Verhoeven-Duif N, Jakobs C. Creatine and its metabolites. In Laboratory Guide to the Methods in Biochemical Genetics. Springer Berlin Heidelberg. 2008. p. 739-749 doi: 10.1007/978-3-540-76698-8_32