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Metabolomics proteomics


The Metabolomics and proteomics platform is part of the research support platforms of the Biocruces Bizkaia Institute.

The purpose of the unit is to provide the equipment, technical assistance and specialized training necessary to carry out the determination of defined markers in inborn errors of metabolism, as well as the search for new biomarkers, diagnostic and prognostic, which allow a better understanding of metabolic pathologies and other disorders.

metabolomics comprises various analysis techniques that allow obtaining the set of metabolites of an organism (metabolic intermediates, hormones, low molecular weight molecules) at a given time. Comparison of the metabolomes between the control group and the tested group can show differences in their profiles, which can be associated with a certain biological condition, being able to determine which metabolites are associated with said condition and which can act as a diagnostic or evolutionary biomarker of the itself, in the event that a disease is investigated.

General description

Metabolomic analysis has a key role to play in the following fields:

  • Searching for diagnostic and progression biomarkers for diseases .
  • Identifying which metabolic changes are observed after the modification or deletion of a gene.
  • Studying the final destination of nutrients and ascertaining how this affects the metabolism.
  • Toxicology and pharmaceutical research.

Proteomics consists of, on the one hand, studying and characterising the set of proteins of an organism, and on the other, searching for protein biomarkers associated with given diseases. That is, by studying the proteome, we can obtain a list of the set of proteins that are expressed under specific conditions. Further, comparing the proteome under different types of stress (environmental or pathological), we can identify which proteins are expressed to a greater or lesser extent under these conditions, and which proteins could serve as biomarkers for diagnosing a disease or predicting the progression of thereof.

Both Metabolomics and Proteomics rely on powerful bioinformatic tools, to carry out statistical analysis for searching for biomarkers, and subsequently to identify markers in databases and mass spectral libraries.


Portfolio of services

  • Glycosaminoglycans - Spectrophotometry / OR. Cert. 2020 - Cert. 2019 - Cert. 2018 - Cert. 2017 - Cert. 2016 - Cert. 2015 - Cert. 2014 -
  • HCII-T complex (MPS I, II and VI) - ELISA / SR, SP.
  • Heparan sulfate - ELISA / PL, MR.
  • Fatty acid profile (total and fractions) - GC-FID / PL, HEM, TISSUE.
  • Acylcarnitine profile - HPLC-MS / MS / SP. Cert. 2020 - Cert. 2019 - Cert. 2018 - Cert. 2017 - Cert. 2016 - Cert. 2015 - Cert. 2014 -
  • Free / total carnitine - Spectrophotometry / PL, OR.
  • Profile of organic acids and acylglycines - GC-MS / OR. Cert. 2020 - Cert. 2019 - Cert. 2018 - Cert. 2017 - Cert. 2016 - Cert. 2015 - Cert. 2014 -
  • Methylmalonic acid - GC-MS / OR.
  • Glutaric acid and 3-OH glutaric acid - GC-MS / OR.
  • 3-OH propionic and methyl citric acid - GC-MS / OR.
  • Amino acid profile - Ion Chromatography / PL, OR, LCR.
  • Arginine and dimethylarginines (ADMA, SDMA, NMMA) - HPLC-MS / MS / PL, OR.
  • BH4 (Phe and Tyr) overload test - HPLC-UV / PL.
  • Creatine / guanidinoacetate - HPLC-MS / MS / PL, OR.
  • Creatinine - HPLC-MS / MS / PL, OR.
  • Nitisinone (NTBC) HPLC-MS / MS / PL, SP. Cert. 2020 - Cert. 2019 -
  • S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH).
  • Typing of glycosaminoglycans (GAGs).
  • Neonatal screening (acylcarnitines).
  • Basic screening for en. metabolic (amino acids / organic acids / acylcarnitines).
  • Phenylacetylglutamine / Hippuric (urine).
  • Phenylacetylglutamine / Hippuric (plasma).

  • MPS I (alpha-iduronidase) / SP enzymatic activity.
  • MPS II (iduronate-2-sulfatase) / SP enzymatic activity.
  • MPS VI (arylsulfatase B) / SP enzymatic activity.
  • Fabry enzyme activity (alpha-galactosidase A) / SP.
  • Gaucher enzyme activity (beta-glucosidase) / SP.


Currently, the service has the following infrastructure:

Gas Chromatograph with Flame Ionization Detection (FID) [Agilent 7890 GC]

It is currently used for the determination of fatty acids in plasma and red blood cells, as well as in different lipid fractions (phospholipids, triglycerides and cholesterol esters). In general, the equipment is prepared for the analysis of volatile organic compounds.

High Resolution Liquid Chromatograph-Triple Quadrupole Mass Detector [Agilent 1100 series-Agilent 6410 QQQ]

It detects with great sensitivity and selectivity small molecules with a molecular weight of less than 2000 Da. Molecules don't have to be volatile. Currently, it is used for the determination of the acylcarnitine and amino acid profile in dry blood, the determination of various cardiovascular markers, such as asymmetric dimethylarginine (ADMA) and related molecules, the assessment of the creatine-guanidinoacetate-creatinine pathway, the quantification of NTBC drug in patients with tyrosinemia and assessment of methylation potential by analysis of S-adenosylmethionine and S-adenosylhomocysteine ​​in plasma.

Gas Chromatograph-Mass Spectrometer [Agilent GC 5990-Agilent MSD 6410]

Useful for all kinds of small molecules that are volatile or become volatile through derivatization. Currently, it is used for the study of the urinary organic acid profile, the detection of methylmalonic acid and succinylacetone.

Ion chromatograph amino acid analyzer [Biochrom 30]

Equipment oriented only to the analysis of amino acids in plasma, urine and cerebrospinal fluid.

UV-Vis Spectrophotometer [HP 8453]

The equipment is used for the analysis of compounds that contain chromophore groups and whose absorbance is within the UV-Vis range. It is used for the determination of glycosaminoglycans in patients with mucopolysaccharidosis and for the enzymatic determination of free and esterified carnitine in plasma.

Plate Fluorimeter

It is used to quantify the activity of some enzymes whose defect causes various types of lysosomal diseases. The use of the service equipment is open to all researchers at the Cruces University Hospital, as well as other research centers, both public and private.

Platform members


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