Genetic Tests To Include Biotinidase Deficiency
posted July 28, 2003
Nashville: The Tennessee Department of Health has added biotinidase deficiency to the list of genetic disorders for which all babies born in Tennessee are tested. Infants with biotinidase deficiency and other genetic disorders appear completely normal at birth, but can develop serious problems after the first weeks or months of life. Symptoms can be prevented through early diagnosis and treatment.
"Newborn screening allows doctors to intervene early in the lives of an affected infant before problems develop. By adding biotinidase deficiency to our testing program, we can be sure that infants with this condition will be identified and started on early treatment," said Kenneth Robinson, MD, Commissioner of Health.
Biotinidase deficiency is an inherited disease that occurs in about one of every 70,000 babies born. It is caused by the lack of an enzyme in the baby's body called biotinidase, which helps the body break down a vitamin called biotin. Biotin is vital to many body processes, and babies with this condition need more biotin than is normally found in the diet. Giving the child a biotin vitamin daily can treat biotinidase deficiency. Left untreated, children with this condition can develop seizures, feeding difficulties, illness soon after birth, low muscle tone, skin rash or infection, developmental delays and hearing loss.
The Department of Health's laboratories screen about 75,000 babies a year for galactosemia, phenylketonuria, hypothyroidism, hemoglobinopathies, congenital adrenal hyperplasia, and now biotinidase deficiency. Hospitals take a tiny blood sample to be used for screening before a baby is discharged. While all of the disorders are rare, lack of treatment can cause mental retardation, severe illness, or even death. The newborn screening program identifies about 150 babies every year who are referred for further medical attention.
The Tennessee Department of Health has recently purchased specialized equipment that will allow for screening of additional diseases beginning later this year.
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