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.

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.

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

More information


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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