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My doctor talked over my head. We are confused. What is pku?

2 doctors weighed in
Dr. Robin Ohls
Pediatrics - Neonatology
1 doctor agrees

In brief: A rare disease

Pku stands for phenylketonuria, a rare disease in which a baby is born without the ability to properly break down a building block of protein called phenylalanine.
People with pku have a build up of phenylalanine, which can cause brain damage. Dietary treatment of pku involves avoiding foods high in phenylalanine. A special infant formula called lofenalac is made for infants with pku.

In brief: A rare disease

Pku stands for phenylketonuria, a rare disease in which a baby is born without the ability to properly break down a building block of protein called phenylalanine.
People with pku have a build up of phenylalanine, which can cause brain damage. Dietary treatment of pku involves avoiding foods high in phenylalanine. A special infant formula called lofenalac is made for infants with pku.
Dr. Robin Ohls
Dr. Robin Ohls
Thank
Dr. James Ferguson
Pediatrics

In brief: Blond/slow/seizures

For babies born without newborn screening this is a significant risk.
They have blonder hair than they should, develop slowly and eventually have seizures and diminished intellect. Screening tests can pick this up in the newborn period and treatment with special diet can preserve normal growth/development/function.The screening test can be falsely positive so verification tests are very important

In brief: Blond/slow/seizures

For babies born without newborn screening this is a significant risk.
They have blonder hair than they should, develop slowly and eventually have seizures and diminished intellect. Screening tests can pick this up in the newborn period and treatment with special diet can preserve normal growth/development/function.The screening test can be falsely positive so verification tests are very important
Dr. James Ferguson
Dr. James Ferguson
Thank
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