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Creatine as Biomarker

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General Methods in Biomarker Research and their Applications

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Abstract

Creatine (Cr) is a nitrogenous organic compound which plays a relevant function in the cellular energy metabolism supplying high-energy phosphate groups to the cell through the creatine kinase–phosphocreatine system. Over time, additional information about extra functions of Cr has been reported, such as its role as antioxidant, antiapoptotic, neuroprotective, or neurotransmitter.

Half of the body requirements of Cr are supplied by diet, and the rest is synthesized endogenously by two enzymes, l-arginine:glycine amidinotransferase (AGAT) and S-adenosyl-l-methionine:N-guanidinoacetate methyltransferase (GAMT). Cr is internalized into the cells through a specific membrane Cr transporter. Three inherited metabolic disorders have been described, involving the biosynthetic pathway (GAMT and AGAT deficiencies) and the transporter of Cr (CRTR). These diseases are known as cerebral Cr deficiency syndromes. The measurement of Cr is used worldwide as the biomarker for the biochemical diagnosis of these diseases. Furthermore, numerous investigations have been carried out to analyze the relation between Cr and other metabolic pathways, such as the mitochondrial respiratory chain, the urea cycle, the methylation, or the transsulfuration pathways.

In addition to the role of Cr as biomarker in the biosynthesis and transport of Cr disorders, this chapter is focused on the role of Cr as biomarker of different pathologies including mitochondrial diseases, congenital urea cycle defects, kidney and liver diseases, cancer processes, thyroid defects, and autism.

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Abbreviations

2D-NMR:

Two-Dimensional Nuclear Magnetic Resonance Spectroscopy

31P MRS:

Magnetic Resonance spectroscopy

ADMA:

Asymmetric Dimethylarginine

AGAT:

l-arginine:Glycine Amidinotransferase

ALT:

Alanine Aminotransferase

ANT-1:

Adenine Nucleotide Translocator 1

ASDs:

Autism Spectrum Disorders

ASL:

Argininosuccinate Lyase

ASS:

Argininosuccinate Synthetase

AST:

Aspartate Aminotransferase

CCDS:

Congenital Disorders of Creatine Metabolism

cCKs:

Cytosolic CKs

CCS/C:

(Choline + Creatine + Spermine)/Citrate

CJMG:

Cataract Juvenile, Microcornea, and Glucosuria

CK:

Creatine Kinase

CNVs:

Copy Number Variations

Crn:

Creatinine

CRTR:

Creatine Transporter

EC:

Esophageal Carcinoma

GAA:

Guanidinoacetate

GAMT:

S-Adenosyl-l-Methionine:N-Guanidinoacetate Methyltransferase

GFR:

Glomerular Filtration Rate

GSA:

Guanidinosuccinic Acid

HHH:

Hyperammonemia–Hyperornithinemia–Homocitrullinuria

H-MRS:

Proton Magnetic Resonance Spectroscopy

HPLC–FLD:

Liquid Chromatography–Fluorescence Detection

HRMAS:

High-Resolution Magic-Angle Spinning

LC–MS:

Liquid Chromatography–Mass Spectrometry

LC–MS/MS:

Liquid Chromatography with Tandem Mass Spectrometry

LPI:

Lysinuric Protein Intolerance

MELAS:

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

MERRF:

Myoclonus Epilepsy and Ragged-Red Fibers

MPT:

Mitochondrial Permeability Transition Pore

MRS:

Magnetic Resonance Spectroscopy

MRSI:

Magnetic Resonance Spectroscopic Imaging

mtCKs:

Mitochondrial CKs

OAT:

Ornithine Delta-Aminotransferase

OTC:

Ornithine Transcarbamylase

PCr:

Phosphocreatine

RCD:

Respiratory Chain Deficiency

ROS:

Reactive Oxygen Species

SAH:

S-Adenosylhomocysteine

SAM:

S-Adenosylmethionine

UCDs:

Urea Cycle Defects

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Authors and Affiliations

  1. Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, CIBERER, IDIBAPS, c/ Mejia Lequerica s/n Helios III, 08028, Barcelona, Spain

    Antonia Ribes, Sonia Pajares, Ángela Arias & Judit García-Villoria

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  1. Antonia Ribes
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  2. Sonia Pajares
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  3. Ángela Arias
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  4. Judit García-Villoria
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Correspondence to Antonia Ribes .

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Editors and Affiliations

  1. Department of Nutrition and Dietetics, Division of Diabetes & Nutritional Sciences, Faculty of Life Sciences & Medicine, King's College London, London, United Kingdom

    Victor R. Preedy

  2. Faculty of Science & Technology, Department of Biomedical Sciences, University of Westminster, London, United Kingdom

    Vinood B. Patel

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Ribes, A., Pajares, S., Arias, Á., García-Villoria, J. (2015). Creatine as Biomarker. In: Preedy, V., Patel, V. (eds) General Methods in Biomarker Research and their Applications. Biomarkers in Disease: Methods, Discoveries and Applications. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7696-8_39

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