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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, Biopterin Defect can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with Biopterin Defect.
About Biopterin Defect
Children affected by Biopterin Defect are not able to break down certain amino acids in food. This causes unhealthy amounts of phenylalanine and other substances to build up in the body.
If untreated, Biopterin Defect can cause seizures, severe intellectual disabilities, and brain damage. Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Biopterin Defect is very rare and affects approximately one in 1,000,000 babies in the United States.
Condition Type
Biopterin Defect is an Amino Acid Disorder.
Also Known As
BH4 Deficiency, BIOPT-BS, BIOPT-REG, Biopterin Cofactor Defects, Disorders of Biopterin Biosynthesis, Non-Phenylketonuric Hyperphenylalaninemia, Phenylalanine, Tetrahydrobiopterin Deficiency