Biotinidase Activity Neonatal Dried Blood Spot

This test evaluates the activity level of the biotinidase enzyme in newborns. Biotinidase Activity Neonatal Dried Blood Spot measures the activity of biotinidase in newborns to detect a rare genetic disorder called biotinidase deficiency.

This test is done primarily:

• To screen for biotinidase deficiency in newborns
• To diagnose metabolic disorders or inborn errors of metabolism
• To confirm suspected metabolic disorders based on symptoms
• To provide early intervention and treatment if deficiencies are detected

This test may be recommended in the following conditions:

• Newborn screening between 48 hours and 5 days after birth
• Newborns with family history of metabolic disorders
• Infants showing symptoms like seizures, developmental delays, or skin rashes
• Babies with clinical suspicion of metabolic diseases

• Low activity could indicate biotinidase deficiency.
• Early diagnosis can lead to treatment with biotin supplements.
• Abnormal results should be discussed with your healthcare provider for further evaluation.

When collecting a dried blood spot sample:

• A small heel or finger prick will be done on your baby.
• Blood is placed on a special filter paper card.
• The card is then dried horizontally for at least three hours.

Before the test:

• Fasting is recommended but not mandatory.
• Stop amino acid supplementation or medications based on physician advice.
• Ensure no foreign substances contaminate the filter paper card.

Consult your healthcare provider for specific requirements.

Other tests may include:

• Plasma Testing: For confirmation of results.
• Liquid Chromatography-Mass Spectrometry (LCMS) or Gas Chromatography-Mass Spectrometry (GCMS) Methods: For further evaluation in cases where there are complex or ambiguous.
• Repeat Testing or Workup: For positive screen cases based on initial results.

Newborn Screening for Biotinidase Deficiency or Neonatal DBS Biotinidase Enzyme Assay

Biotinidase deficiency is an inherited condition where the body lacks sufficient biotinidase enzyme to process biotin effectively. This deficiency can lead to neurological issues, skin problems, and other health complications if left untreated.