Metabo Test INFAI®

Urine investigations using an NMR spectrometer

Urinary metabolite screening for the diagnosis of metabolic diseases in neonates and children. The test is evaluated by NMR spectroscopy. The INFAI database of over 1000 metabolites is used to identify various metabolic diseases.

Brochure for physicians
Brochure for parents
Brochures
Contact us

Principle of the Metabo Test INFAI

Several metabolic products in the urine are measured to diagnose a variety of metabolic diseases. As only a urine sample is needed for evaluation, no prescription is needed for this product. The test is evaluated by NMR spectroscopy. INFAI’s database of over 1000 metabolites is used to identify different metabolic diseases.

Indications for the Metabo Test INFAI

Metabo Test INFAI is performed by INFAI in cooperation with Bruker. This test is designed to test for congenital metabolic diseases in children, such as errors in lipid or amino acid metabolism, peroxysomal diseases, neuro-transmitter diseases, and others. These diseases are commonly hereditary and are passed on by autosomal recessive mechanisms. Thus, this test is particularly recommended for use as a screening test for neonate and children. However, adults, for instance those suffering from food allergies attributed to metabolic deficiencies, are also a target group.
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates, JIMD Reports 2014, 16, 101-111

Newborn Screening in Turkey

As part of a clinical study, around 1000 newborns were investigated for congenital metabolic diseases using NMR in 15 study centers.
Brochure
Flyer

Newborn Screening in Turkey

INFAI and Bruker BioSpin are currently conducting a pilot study to establish NMR spectroscopy in the screening of newborns for inborn errors of metabolism. Congenital metabolic disorders occur in 1 in 1500 newborns in Central Europe and in 1 in 500 in Turkey. Urine samples from 1,000 healthy newborn babies from Turkey were collected on their third day of life at 15 study centers in eight Turkish cities (see map). Data from healthy newborns are essential to establish a statistical basis to separate children suffering from congenital metabolic disorders from the statistical model of normality and to avoid possible wrong diagnosis.
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates, JIMD Reports 2014, 16, 101-111

Study poster
Poster Rare Diseases

Downloads

More information

Protocol for additional NMR investigations
Protocol for newborn screening
Patient Documentation Form
Instruction For Urine Collection
NMR request formular
Customer Declaration
Shipping statement

More information

References

  • Speyer, C. B., & Baleja, J. D. (2021). Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism. Emerging topics in life sciences, 5(1), 39–48.
  • Capati A, B Ijare O, Bezabeh T, Diagnostic Applications of Nuclear Magnetic Resonance–Based Urinary Metabolomics, Magnetic Resonance Insights, 10 (2017) 1-12.
  • Noto A, Fanos  V, Dessì A, Metabolomics in Newborns. Advances in Clinical Chemistry, 74 (2016) 35-61.
  • Aygen S, Dürr U, Hegele P, Kunig J, Spraul M, Schäfer H, Krings D, Cannet C, Fang Fang, Schütz B, Bülbül SFH, Aydin HI, Sarici SÜ, Yalaz M, Örs R, Atalan R, Tuncer O, NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates,
    JIMD Reports 14 (2014) 326.
  • Clark H, Kelleher AS, Chace DH, Spitzer AR, Gestational Age and Age at Sampling Influence Metabolic Profiles in Premature Infants, Pediatrics 134 (2014) e37.
  • Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL, Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead, JIMD Reports 14 (2014) 302.
  • Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB, Newborn Screening for Glutaric Aciduria-II: The New England Experience, JIMD Reports 13 (2014) 1.
  • Leal J, Wordsworth S, Oerton J, Khalid JM, Dezateux C, Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence, J Clin Epidemiol (2014).
  • Aygen S, Dürr U, Coskun T, Dursun A, Different diagnosis: distinction between L-2- and D-2-hydroxyglutaric acid, JIMD 36 (Suppl. 2) (2013) S164.
  • Saudubray JM, van den Berghe G, Walter JH, Inborn Metabolic Diseases – Diagnosis and Treatment, 5th Edition, Springer (2012).
  • Gryff-Keller A, Kraska-Dziadecka A, Kubica D, Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases, Acta Biochim. Pol. 59 (2012) 613.
  • Aygen S et al., Urine based newborn screening study applying high-resolution NMR spectroscopy in Turkey, JIMD 34 (Suppl. 3) (2011) S256.
  • Assfalg M, Bertini I, Colangiuli D, Luchinat C, Schäfer H, Schütz B and Spraul M, Evidence of different metabolic phenotypes in humans, PNAS 105 (2008) 1420.
  • Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA, NMR spectroscopy of amino-acylase 1 deficiency, a novel inborn error of metabolism, NMR Biomed. 21 (2008) 138.
  • Blau N, Duran M, Blaskovics ME, Gibson KM, Laboratory diagnosis of metabolic diseases, Springer (2005) 363.
  • Topcu M, Coskun T et al., L-2-Hydroxyglutaric aciduria: a report of 29 patients, Turkish J. Pediatr. 47 (2005) 1.
  • Blau N, Duran M, Blaskovics ME, Gibson KM, Physician‘s Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd Edition, Springer (2003).
  • Moolenaar SH, Engelke UF, Hoenderop SM, Sewell AC, Wagner L, Wevers RA, Handbook of 1H-NMR spectroscopy in inborn errors of metabolism, SPS 2002.
  • Linn T, Santosa B, Grönemeyer D, Aygen S, Scholz N, Busch M, Bretzel RG, Effects of longterm dietary protein intake on glucose metabolism in humans, Diabetologica 43 (2000) 1257.
  • Lindon JC, Nicholson JK, Everett JR, NMR spectroscopy of biofluids, Ann. Rep. NMR Spectr. 38 (1999) 1.
  • Holmes E, Foxall PJD, Spraul M, Farrant RD, Nicholson JK, Lindon JC, 750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine…, J. Pharm. Biomed. Anal. 15 (1997) 1647.
  • Aksu F, Aygen S, Vigabatrintherapie bei einem 7jährigen Jungen mit Succinat-Semialdehyd-Dehydrogenase-Mangel, Monatsschrift Kinderheilkunde 144 (1996) 797.
  • Aygen S et al., Hochauflösende 1H NMR Spektroskopie von Körperflüssigkeiten (Serum, Urin, Liquor) zur Diagnose und Therapiekontrolle bestimmter angeborener Stoffwechselerkrankungen
    im Kindesalter, Aktuelle Neuropädiatrie, Ciba-Geigy Verlag (1994) 273.
  • Yamaguchi S, Koda N, Eto Y, Aoki K, Quick screening and diagnosis of organic acidemia by NMR urinalysis, J. Pediatr. 106 (1985) 620.

Studies

Study number: IBDNMR09, Start 2009 Duration 2009-2012

Optimisation and validation of a fast screening method in the determination of metabolic diseases in neonates using high resolution NMR spectroscopy of urine. Sponsor: INFAI and Bruker