β-Ureidopropionase (β-UP)

Disease

β-UP deficiency.

Description

β-Ureidopropionase (β-UP) catalyzes the third reaction of the pyrimidine degradation pathway. A deficiency is associated with neurological abnormalities.

OMIM

606673

Method

HPLC-Radiochemistry

Price

€ 650


Liver

  • Test material: Liver biopsy.
  • Conditions: Dry ice.
  • Specifics: Liver needle biopsies (> 50 mg wet weight) should be frozen immediately in liquid nitrogen, stored at -80 °C, clearly labeled (with name of patient and date of birth), and subsequently shipped by courier service on dry ice. Please make sure to add enough dry ice for the sample to reach our laboratory in a fully frozen state. Do not add any fixative or other fluid! Please complete the test request form and send it along with the sample.
  • TAT: 3 weeks.