Molecular diagnosis of MSUD (Maple syrup urine disease)

Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. Disease is caused by mutations in the BCKDHA, BCKDHB or DBT gene.

Indications for molecular genetic testing are:

  • final confirmation of diagnosis of MSUD
  • carrier detection in family members in order to get genetic advice about future pregnancies

Laboratory for molecular biomedicine conducts complete analysis of BCKDHA or BCKDHB gene, as well as carrier detection in family members at risk for a known mutation. These analyses are based on sequencing and do not include detection of large deletions or duplications.

It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

For payment instructions, please contact us.


dr Maja Stojiljković

dr Sonja Pavlović

Tel: +381 11 3976 445

Mob: +381 65 3976 445

Fax: +381 11 3975 808


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