Introduction to Biotinidase Deficiency
Biotinidase deficiency (BTD) is a genetic disorder that affects the ability to recycle the vitamin biotin, which is necessary for many physiological functions. Infants with this condition may experience symptoms such as hair loss, dermatitis, seizures, and muscle weakness if not diagnosed and treated promptly.
Cause: Biotinidase deficiency is caused by mutations in the BTD gene, resulting in a deficiency of the enzyme biotinidase, which is necessary for recycling biotin from biocytin.
Incidence: The incidence of biotinidase deficiency has been reported as follows: severe biotinidase deficiency 1/137,401, partial deficiency 1/109,921, and severe deficiency and partial deficiency 1/61,067.
Semi-automatic solution
- Product name: Neonatal Biotinidase kit
- Product code: 3018-0010 3018-001B
- Manufacturer: Wallac Oy – Finland
- Packing: 960 / 4800 tests
- Test principle:
The Neonatal Biotinidase kit is based on a semi-quantitative fluorescence assay developed by Pitkänen and Tuuminen. The substrate of the biotinidase enzyme is biotin 6-aminoquinoline (BAQ). Biotinidase is found in dried blood samples and during the enzyme-catalyzed reaction, BAQ is cleaved to form the fluorescent product 6-aminoquinoline (6-AQ). When the reconstituted biotin substrate reagent is added to the wells containing the dried blood sample, the reagent will dissolve and regenerate the proteins and enzymes in the sample. This allows the above reaction to occur. The activity of biotinidase is measured in enzyme units (U). Add alcohol to the wells at the end of the test to stop the reaction, precipitate the protein to the bottom of the well and separate the blood drop. The fluorescent product (6-AQ) is produced when the reaction takes place under the catalysis of biotinidase and is measured by a fluorometer plate. The activity of biotinidase is determined according to the calibration curve and the test is controlled with the calibration sample included in the kit. The fluorescence signal is measured with a central excitation wavelength of 355 nm and a central emission wavelength of 460 nm.
Application: The kit is used to semi-quantitatively determine the activity of biotinidase in dried blood samples on dried blood blotting paper of newborns from 2 to 4 days old on the VICTORTM 2D fluorometer to screen for biotinidase deficiency in newborns. Suitable for hospitals with small and medium sample volumes.
Other equipment required for the test:
- VICTORTM 2D Fluorometer
- Wallac DBS Puncher or Panthera-Puncher™ 9 Dry Blood Puncher
- DELFIA® Plateshake
- TriNEST™3 Microplate Incubator Shaker
Automated Solution
- Product Name: GSP® Neonatal Biotinidase kit
- Product Code: 3307-0010
- Manufacturer: Wallac Oy – Finland
- Packing: 1152 tests
- Test Principle:
The GSP Neonatal Biotinidase test combines an enzymatic reaction with a time-dependent immunofluorescence assay on solid phase. The Neonatal Biotinidase test relies on the ability of the biotinadase enzyme to cleave the amide bond in the Eu-labeled biotin molecule. The enzymatic reaction is stopped by adding streptavidin, a protein with a high affinity for biotin (labeled with Eu or free biotin). The streptavidin-biotin complex is retained by anti-streptavidin monoclonal antibodies on the solid phase. The DELFIA® enhancement solution separates the molecules into the solution to measure the fluorescence signal of europium. The measured fluorescence signal is inversely proportional to the biotinidase activity in the sample.
Application: The kit is intended for use in the determination of biotinidase activity on dried blood spots from 2-4 days old newborns on the GSP® system for screening of biotinidase deficiency in newborns. Suitable for hospitals and testing centers with medium and large sample volumes.
Other equipment required for the test:
- GSP® system
- Wallac DBS Puncher or Panthera-Puncher™ 9
