Biotinidase Newborn Screening

Biotinidase Newborn Screening Overview

Biotinidase newborn screening test is used by doctors to detect and diagnose biotinidase deficiency in newborns. Biotinidase deficiency is an inherited condition where newborn babies have difficulty in processing proteins, carbohydrates, and fats in their body correctly. This condition is caused by a change in the BTD gene. This gene gives your body instructions for making the enzyme biotinidase. This condition makes it difficult for the baby’s body to produce energy and expel waste. 

There are two types of biotinidase deficiency depending on the proper activity of biotinidase in the child’s body: severe (called profound biotinidase deficiency) and mild (called partial biotinidase deficiency). Without appropriate treatment this condition can cause serious complications for children as carbohydrates, proteins, and fats that are not broken down completely due to this condition can be toxic for the child. Hence adding biotin to the baby’s diet can allow these enzymes to function. The goal of this test is to measure the activity of the enzyme biotinidase and start appropriate treatment measures for the newborn.

When Is Biotinidase Newborn Screening Prescribed?

Signs of biotinidase deficiency often appear within the first few months of life but can appear later in life for newbornsThe biotinidase newborn screening test is prescribed to children who exhibit symptoms like:

• Skin rashes
• Alopecia (Hair Loss)
  
• Weak muscle tone

• Seizures
• Delayed physical development.
• Hearing and vision loss

Often common health problems like cold and symptoms of flu can trigger the symptoms mentioned.Based on the biotinidase newborn screening test results, doctors can start treatment for biotinidase deficiency, if required.

Components of Biotinidase Newborn Screening

The normal range of biotinidase in newborns ranges between 6 to 15 units/mL. Based on the biotinidase newborn screening test results, doctors can diagnose biotinidase deficiency. Doctors can start treatment or recommend watchful monitoring of the condition based on the results.

Procedure And Prerequisites

The procedure for performing a biotinidase newborn screening test is to perform a heel prick to collect one drop of blood over 5 spots of filter paper available from Aster Labs (AL-GF-0013.) 

As a prerequisite for this test, doctors recommend parents to mention the clinical details of the patient and medicinal history along with the sample. No fasting is necessary before going through this test.