I am a second year medical student and I was recently visiting Ukraine and I had a young mother approach me with a question about PKU. Her daughter was diagnosed with PKU at the age of 3, right now she is 11. Unfortunately, doctors were unable to provide family with instructions how to maintain a proper diet, so child was not restricted by any foods. This child is suffering from mental retardation. This family resides in a small village and has very limited financial resources and/or access to medical care.
Could anyone please advise this family on how to develop a diet for this young girl.
thank you very much for any help or suggestions.
PKU (phenylketonuria) is a recessive hereditary trait disorder that the body fails to oxidize an amino acid (phenylalanine) to tyrosene because of a defective enzyme. It is a shame this child was not diagnosed at birth, and mental retardation may have been prevented if the diet was started before the age of 3. The diet is a Low Phenylalanine (phe) diet which high protein foods, such as milk, dairy products, meat, fish, chicken, eggs, beans, and nuts must be eliminated from the diet. These foods cause high blood phe levels for people with PKU. The child should have her blood phe levels monitored on a regular basis. Additional information is on the following websites: www.pku.news.org and www.depts.washington.edu/pku/diet.html
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