Find Support With:
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, Homocystinuria 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 Homocystinuria.
About Homocystinuria
Homocystinuria is a condition in which the body is unable to break down certain proteins. Amino acids, the small molecules that proteins are made of, build up in the body and can cause serious health problems.
If untreated, people with Homocystinuria can have increased vision problems, intellectual disability, blood clots, heart disease, and stroke. Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Homocystinuria affects approximately 1 in 200,000 to 300,000 babies in the United States.
Condition Type
Homocystinuria is an Amino Acid Disorder.
Also Known As
CBS Deficiency, Cystathionine Beta-Synthase Deficiency, HCU, HCY, Homocystinemia, Methionine