What is Biotinidase Deficiency Screening ?
Biotinidase deficiency screening is a newborn screening test that checks for a rare genetic disorder called biotinidase deficiency. Biotin is a vitamin essential for metabolism. When a baby has biotinidase deficiency, their body cannot break down biotin properly, leading to a buildup of harmful substances.
Why Biotinidase Deficiency Screening is required?
Early detection of biotinidase deficiency is crucial because untreated can lead to serious health problems, including seizures, developmental delays, hair loss, skin rash, and even death.
which are the method of Biotinidase Deficiency Screening?
Biotinidase deficiency screening is typically performed as a heel stick test on newborns within the first few days of life. A small sample of blood is collected and tested for biotinidase enzyme activity.
who should go for Biotinidase Deficiency Screening?
All newborns should undergo biotinidase deficiency screening as part of routine newborn screening programs.
What are the results of Biotinidase Deficiency Screening?
A positive result on a biotinidase deficiency screening test indicates that the baby may have biotinidase deficiency. However, a confirmatory test is usually required to confirm the diagnosis.
What are the components of Biotinidase Deficiency Screening?
The screening test measures the activity of the biotinidase enzyme in the blood sample. A low level of enzyme activity suggests a possible biotinidase deficiency.
