This is a blood test done to newborns before they are discharged from the hospital after birth. They look for serious metabolic, developmental and genetic disorders. Though these illnesses are very rare, it is critical that they are treated before symptoms develop. In the USA, each state regulates the screening, so the diseases screened for can vary considerably. Though most screening panels test for 40 different disorders, all 50 states screen for Congenital Hypothyroidism, Galactosemia and Phenylketonuria. As a new mom, I didn’t know what any of these illnesses were or why we needed to test for them, so let us look at the individually.
PKU – Phenylketonuria
PKU is an inherited disorder, where the body can’t breakdown parts of a protein, an amino acid called Phenylalanine. If not treated soon after birth, these phenylalanine levels will rise, causing brain and nervous system damage, and intellectual abilities.
Screening for PKU is done shortly after birth, making early diagnosis and treatment possible. Starting treatment within the first weeks of birth can help prevent lasting brain damage. In rare cases children that receive treatment will have behavioral or learning disabilities. If left untreated, PKU causes a progressively severe intellectual disability.
Symptoms of PKU include
- Weight loss from vomiting and diarrhea
- A musty odor of urine, hair and skin
- Light sensitivity
- Skin problems
Those diagnosed with PKU will have to follow a low protein diet throughout their lives. For women with PKU who become pregnant, they must manage their phenylalanine levels very carefully to prevent harm to their unborn baby. Babies born to mothers with high PKU levels are at risk for intellectual and development issues.