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The principal investigator is clinical biochemist at the Málaga Regional
University Hospital. Since 2009 she is coordinator of the Laboratory of
Metabolic Disorders and Newborn Screening Center of Eastern Andalusia,
located in Hospital Materno Infantil of Málaga.
This laboratory analyzes the
newborn screening samples of newborns from Málaga, Granada, Almería and
Jaén. Since 2010, the center carries out the expanded metabolic screening, via tandem mass spectrometry, having studied at present about 400,000 newborns and detecting approximately 200 cases.
Her clinical work includes the early detection of congenital hypothyroidism,
cystic fibrosis, hemoglobinopathies and 28 hereditary metabolic diseases
through tandem mass spectrometry, the interpretation of results, the diagnosis of confirmation and biochemical monitoring together with specialized clinical units.
In 2012 she made a training stay at the Department of Genetics Biochemistry of the Mayo Clinic in Rochester, MN, USA, to learn about new analytical
applications of neonatal screening that she is currently performing (second level tests and post-analytical computational tools). In recent years, she has tried to combine her care work with clinical research. The fields in which she is especially interested are: the introduction of new markers in neonatal screening by tandem mass spectrometry, the quality assurance of the program, the evaluation of new technologies applied to newborn screening and the diagnostic approach to hereditary metabolic diseases. She has been principal investigator in several competitive grants and author of more than twenty publications in JCR-indexed journals. She belongs to the cross-sectional area of ​​IBIMA-RARE.


Dra. Raquel Yahyaoui
Hospital Materno Infantil, Laboratorio de Metabolopatías, planta baja

Avenida Arroyo de los Angeles s/n 29011 MALAGA, ESPAÑA
Tfno: +34951292274


Ongoing and finished grants in the last five years

Implementation of second level tests in the neonatal screening program of Eastern Andalusia


ENTIDAD DE REALIZACIÓN: Hospital Regional Universitario de Málaga


DURACIÓN: 2017 – 2020 PRESUPUESTO: 51.700,00€

FINANCIADO POR: Consejería de Salud de la Junta de Andalucía

System medicine applied to precisión diagnostic of patients with undiagnosed genetic rare diseases


ENTIDAD DE REALIZACIÓN: Universidad de Málaga y Hospital Regional Universitario de Málaga



DURACIÓN: 2020 – 2022 PRESUPUESTO: 67.600,00€

FINANCIADO POR: I+D+i UMA-Programa Operativo FEDER 2014-2020

Hemoglobinopathies neonatal screening: development of a tandem mass- spectrometry-based method for dried blood samples


ENTIDAD DE REALIZACIÓN: Hospital Regional de Málaga


DURACIÓN:2010 – 2013 PRESUPUESTO: 50.455,00€

FINANCIADO POR: Consejería de Salud de la Junta de Andalucía


Relevant publications

Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O,
Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R,
Desviat LR, Ugarte M, Martínez A, Pérez B. Pathogenic variants of DNAJC12
and evaluation of the encoded cochaperone as a genetic modifier of
hyperphenylalaninemia. Hum Mutat. 2020 Jul;41(7):1329-1338. doi:
10.1002/humu.24026. Epub 2020 Apr 30. PMID: 32333439
Yahyaoui R, Pérez-Frías J. Amino Acid Transport Defects in Human Inherited Metabolic Disorders. Int J Mol Sci. 2019 Dec 23;21(1):119. doi:
10.3390/ijms21010119. PMID: 31878022.
Andrade F, Vitoria I, Martín Hernández E, Pintos-Morell G, Correcher P, Puig- Piña R, Quijada-Fraile P, Peña-Quintana L, Marquez AM, Villate O, García Silva MT, de Las Heras J, Ceberio L, Rodrigues E, Almeida Campos T, Yahyaoui R, Blasco J, Vives-Piñera I, Gil D, Del Toro M, Ruiz-Pons M, Cañedo E, Barba Romero MA, García-Jiménez MC, Aldámiz-Echevarría L.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC- MS/MS as treatment compliance biomarkers in Urea Cycle disorders. J Pharm Biomed Anal. 2019 Nov 30;176:112798. doi: 10.1016/j.jpba.2019.112798. Epub 2019 Aug 1. PMID: 31394303.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ,
Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Newborn screening for homocystinurias: Recent recommendations versus current practice. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. PMID: 30740731.
Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. J Inherit Metab Dis. 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. Epub 2019 Feb 21. PMID: 30671984.
Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García- Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9. PMID: 30626930.
Rodriguez-Garcia E, Ruiz-Nava J, Santamaria-Fernandez S, Fernandez-Garcia JC, Vargas-Candela A, Yahyaoui R, Tinahones FJ, Bernal-Lopez MR, Gomez- Huelgas R. Implications of the Mediterranean diet and physical exercise on the lipid profile of metabolically healthy obese women as measured by nuclear magnetic resonance spectroscopy . Chem Phys Lipids. 2018 Jul;213:68-75. doi: 10.1016/j.chemphyslip.2018.03.007. Epub 2018 Mar 23. PMID: 29580835.
Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña- Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. PMID: 30041674.
Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. PMID: 30334577.
Rogne T, Tielemans MJ, Chong MF, Yajnik CS, Krishnaveni GV, Poston L, Jaddoe VW, Steegers EA, Joshi S, Chong YS, Godfrey KM, Yap F, Yahyaoui R, Thomas T, Hay G, Hogeveen M, Demir A, Saravanan P, Skovlund E, Martinussen MP, Jacobsen GW, Franco OH, Bracken MB, Risnes KR. Associations of Maternal Vitamin B12 Concentration in Pregnancy With the Risks of Preterm Birth and Low Birth Weight: A Systematic Review and Meta- Analysis of Individual Participant Data. Am J Epidemiol. 2017 Feb 1;185(3):212- 223. doi: 10.1093/aje/kww212. PMID: 28108470.

Available Tecniques

-Analysis of amino acids and acylcarnitines in dried blood by MS / MS
– Simultaneous determination in dried blood of methylmalonic acid, methyl citric
acid and total homocysteine ​​by LC-MS / MS.
-Determination of immunoreactive trypsinogen and thyrotropin in dried blood by
immunofluorimetric method (DELFIA).
-Determination of hemoglobin variants in dried blood by HPLC.
-Cuantification of chloride in sweat (diagnosis of cystic fibrosis).