What happens to a baby born with PKU?
A baby born to a woman who has PKU that is not controlled with a special diet is at high risk for serious problems. The developing baby in the uterus can be exposed to very high levels of phenylalanine. This can cause low birth weight, slow growth, small head, behavior problems, and heart disorders.
Can phenylketonuria be detected before birth?
Newborn blood testing identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth.
Can PKU be missed at Birth?
Occasionally, cases of PKU are missed by newborn screening. Thus, a repeat PKU test should be performed in an infant who exhibits slow development. Phenylketonuria (PKU) is caused by an autosomal recessive defect in the enzyme phenylalanine hydroxylase, which is required for converting phenylalanine to tyrosine.
What is PKU birth defect?
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.
Can a baby with PKU breastfeed?
Can I breastfeed my baby if I have PKU? Yes you can breastfeed! Breastfeeding is possible for women who have normal babies and who have phe levels in the safe range.
Why shouldn’t you breastfeed if you have maternal PKU?
Your baby will only need to be on the special low Phe diet if they also have PKU. Can I breastfeed while I have PKU? If a baby does not have PKU, their body is able to breakdown the Phe in breast milk. It is still important to remain on diet while breastfeeding your baby to minimize exposure to high levels of Phe.
What can Babies with PKU eat?
When your baby is ready to eat solid foods, they can eat vegetables, fruits, some grains (like low-protein cereals, breads and pasta) and other low-phenylalanine foods. If your baby has PKU, they should not eat: Milk, cheese, ice cream and other dairy products.
Can babies with maple syrup urine disease breastfeed?
Foods that provide the body with protein include milk, meat, fish, cheese, eggs, pulses and nuts. All baby milks (including breast milk) contain more protein than can be tolerated by babies with MSUD. Breast feeding is still encouraged but the amount of milk a baby with MSUD is given will be measured and controlled.
Why does my son smell like maple syrup?
Conditions Maple Syrup Urine Disease. Maple syrup urine disease (MSUD) is a condition in which the body is unable to break down certain proteins. The condition is named for the sweet odor of the urine of untreated babies.
Why does my son’s pee smell like maple syrup?
Maple syrup urine disease is a genetic disorder where a person cannot process certain proteins. It is an inherited disorder, and a parent may notice their baby or child has sweet-smelling urine. This disorder may be fatal if left untreated. It is possible for children to develop less severe forms of the disorder.
What does it mean when you keep smelling maple syrup?
Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.
What is the life expectancy of someone with maple syrup urine disease?
If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days and most will die within several months. Upon any lapse of treatment, classic MSUD can cause brain damage. People with the disease are particularly prone to crisis during illness, infection, fasting, or after surgery.
What does diabetic pee smell like?
Hyperglycemia and diabetes If you have diabetes, you may notice your pee smells sweet or fruity. This is because the body is trying to get rid of the excess blood sugar and is disposing of glucose through your urine.
Why does my pee smell like poop?
Urine that smells like feces could mean that there’s a connection (called a “fistula”) between the rectum and the bladder or urethra. Some vaginal infections have an odd odor that women tend to notice when they urinate.