About PKU

“Phenylketonuria (PKU) is a rare, inherited metabolic disorder that is characterized by the inability of the body to utilize the essential amino acid, phenylalanine (Phe). Amino acids, usually obtained from the food we eat, are the building blocks for body proteins. PKU is caused by a deficiency of the liver produced enzyme phenylalanine hydroxylase (PAH).

Newborn screening allows early identification and early implementation of treatment. The goal of PKU treatment is to maintain the blood level of Phe between 2 and 10 mg/dl[9]. Some Phe is needed for normal growth. This requires a diet that has some Phe but in much lower amounts than normal. High protein foods such as: meat, fish, poultry, eggs, cheese, milk, dried beans, and peas are avoided. Instead, measured amounts of cereals, starches, fruits, and vegetables, along with a milk substitute are usually recommended…A synthetic, Phe free formula is used as a nutritional substitute for the eliminated foods. Formulas are available for all age groups.”  (www.npkua.org)

Our Camilla has PKU.  If this disorder is diagnosed at birth and treated immediately, people with PKU live normal, successful lives.  They still have to manage and deal with their disorder, but the ones I know do it amazingly well!  We are lucky here in the US to have PKU knowledge and treatment available.  However, in China, and many other countries in the world, treatment is not readily available. They are still learning it’s severity and how to best treat it.   PKU kids really suffer without strict diets, which is monitored best by having parents and frequent doctor visits.  Camilla has had limited PKU care, and because of that, she has experienced damage to her brain.  This is part of her story.  We are so lucky to have her and look forward to our new life with our little PKUer!

Read more here:


PKU babysitters guide