The Change family was Just blessed with their second child and are awaiting to take the baby home. Newborn screening revealed that the new baby, Jennifer, is positive for phenolphthalein (PA). The Changes are confused because their baby looks normal and the pregnancy progressed with few complications. Mrs… Change even had a normal amniocentesis early in the pregnancy. The Change family is now looking for answers and advice on how to take care of their child. PKZIP occurs in about 1 in 10,000 to 1 in 15,000 newborns.
It is a autocross recessive trait and is caused when the gene phenylalanine hydroxyls is missing. Phenylalanine hydroxyls is needed to break down an essential amino acid called phenylalanine, found in food containing protein. Symptoms can include; delayed mental and social skills, head size significantly below normal, hyperactivity, seizures, skin rashes and tremors. PKZIP can be treated through a strict diet. Infants have to take a special formula called Lovelace. Throughout the child’s lifetime they will have o stay with a strict diet and regularly see a dietician and primary doctor.
The parents are confused as they did get an amniocentesis in the pregnancy that came back negative. A false negative amniocentesis can come about if a baby is tested before eating enough protein. This means the baby has phenolphthalein, but simply has not consumed enough protein for the level of phenylalanine to be high. There is a 25% chance of their future children having PA. They can best support their child by always keeping onto of her diet and support her decisions.