Newborn Screening For Biotinidase Deficiency

Your baby's newborn screening may include testing for certain biotinidase disorders. In people with biotinidase deficiency, the body is unable to use a type of vitamin called biotin due to decreased activity of biotinidase, an enzyme that releases biotin (vitamin H) from proteins. In the United States, all babies have newborn screening tests to see if they may have certain inherited conditions when they are born.

Many babies with these disorders look and seem healthy at birth. Without treatment, these conditions can lead to serious health problems and even death. With early diagnosis and treatment, most babies with these disorders can lead healthy lives. This is why newborn screening right after birth is so important. People with this condition usually need treatment for their whole life.

How is Newborn Screening Done?

Newborn screening is done during the first few days of your baby's life—usually by a health care provider in the hospital. A few drops of blood from a heel prick are placed on a special card, called a Guthrie card.

This card with your baby's information is mailed to a special state laboratory that will test the blood sample for certain health conditions, including CF. In Nevada, newborn screening involves two blood samples, first one between 24-48 hours of age and second one between 10-14 days of age.

If your baby has a positive newborn screen suggestive of a biotinidase disorder, diagnostic testing is required to separate the true positives from false positives. Other contributing factors may cause a false positive result. As well, newborn screening is not diagnostic and follow-up evaluation is required. These specialized tests are sent to a reference laboratory for testing. Using one reference laboratory for all ordered tests is highly recommended due to smaller specimen volumes and shorter turn-around time for results.

Primary care providers (PCP) should consult with a pediatric metabolic specialist for information and guidance regarding specific diagnostic tests, reference lab results, clinical concerns, and clinical follow-up.

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