Living with PKU

My husband, Ryan, was born with PKU (Phenylketonuria). PKU was initially discovered in 1933 because of a mother persistent in finding someone who could help her two mentally retarded children. One doctor even referred her to a phychiatrist to help her with her "delusion" because she described the penetrating and peculiar odor of her children's urine. A doctor in Norway, Dr. Asbjorn Folling, verified the presence of the urine odor, and it was identified as a chemical compound called phenylpyruvic acid, from which PKU gets it's name. Dr. Folling tested hundreds of mentally retarded children and adults and found that PKU was an inherited condition that only occurs when both parents are carriers of the disease. With years of research and studies the amino acid phenylalanine, found in normal food proteins, was the culprit and a phenylalanine-free mixture of amino acids was created to replace this normal food protein.

PKU gone untreated as an infant will lead to severe mental retardation and behavioral issues.

As a child Ryan was on a strict diet until he was about nine years old. Then the doctors believed that children would grow out of the disease and at that age his diet became much harder to control. A rapid decline in school was to follow with many behavioral issues, by his teenage years he was getting into trouble with the law. This decline took it's toll on his family, friends and most of all him. He dropped out of school in the 9th grade and hit the streets. His life became a daily struggle to survive. In the past year I have done great amounts of research on PKU and we have managed to control his diet much better, unfortunately there are still limits to what we can do without insurance he can't get the very needed formula of good proteins. We do our best but unfortunately we still have to deal with some issues of an improper diet.


Problems of untreated adults with PKU include (but are not limited to) those listed below:

Behavioral and Psychological Problems

• hyperactivity
• irritability
• inability to sit
• sleep disturbances
• pacing
• psychomotor agitation
• temper tantrums
• uncontrollable attacks of rage
• short attention span
• erratic or aggressive behavior
• poor ability to follow directions
• poor ability to learn new things
• psychotic behavior
• destructiveness
• self-injury and self-mutilation
• autistic-like behavior

Neurological Problems

• mental retardation
• seizures
• tremors
• muscular hypertonicity or hypotonicity
• whole body repetitive movements
• spastic paraplegia, quadriplegia or tetraplegia

Other Problems

• eczema (can involve large areas of the body)
• sensitivity to sunlight and very light skin (due to excess PHE inhibiting melanin formation)
• body odor identified as "musty" or "pungent"

Needless to say every day is a journey for us and I know we are not the only family out there dealing with PKU. I wanted to share a bit in hopes that I may have viewers living with the same thing and I wanted to reach out and say you are not alone. I have good days and some not so good but living with PKU has taught me to be Patient, Kind and Understanding.