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The Successful Adaption of an Untreated PKU Adult from a State Development Center to Community Residential Living

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Katie had called a State Development Center her home since October 1966 when she was 13 years old. She was diagnosed with PKU (Phenylketonuria-inherited error of metabolism in which phenylalanine accumulates in the blood and is excreted in the urine because of a missing enzyme) in December 1954 when she was 2-1/2 years old. Vagthol’s-Burbank, a level 4 home, is her first community placement. She moved in on October 6, 1996, after two pre-placement visits and two overnight visits to the home.

Katie’s culinary experience at Vagthol’s-Burbank home began with the regular house diet per her preferences. When Dr. Richard Koch became involved in her case and ordered a check of Katie’s blood phenylalanine level, the diagnosis of PKU was reconfirmed. Her blood value was more than 16 times the expected level. The interdisciplinary team met and initiated a plan to cut the excessive blood phenylalanine by half within a year. It was thought a lower blood phenylalanine level would reduce overweight, manage disruptive behaviors, and decrease getting up during the night.

Through gene testing, it was discovered that Katie has a severe case of PKU, characterized by a mutation of R408W in both chromosomes #12. This defect brings to a halt the processing of phenylalanine in the body. It accumulates in the blood to toxic levels causing brain damage, agitation, itching, restlessness, and fluid retention. Blood phenylalanine level is directly related to dietary protein intake in people with PKU, and there is some phenylalanine found in all natural protein foods. Katie started to gradually reduce the serving size of foods rich in protein. Milk was replaced with a low phenylalanine non-dairy product, which she liked. Smaller servings of meats, poultry and fish were offered and replaced with more fruits and vegetables, which are low in protein. Dr. Koch ordered a special protein powder from which the amino acid phenylalanine has been removed to ensure adequate protein nutrition. At first Katie took the formula with difficulty. Vagthol’s staff tried numerous food and beverage combinations and discovered that powdered orange drink, jelly and cereal masked the flavor of the formula sufficiently. After six months of mild protein restriction, Katie’s blood phenylalanine reduced by 20%

By now, Katie had accepted the formula and PKU Diet as part of her life. Dr. Koch increased the phenylalanine formula and lowered protein-rich foods to 1 ounce a day. Vagthol’s staff made zucchini patties, grilled eggplant and the like to replace meat, chicken and fish dishes. Katie has few teeth so she prefers soft foods; she readily accepted the new cooked vegetable dishes. Little by little she became accustomed to eating processed salads and a variety of fresh fruits which are allowed in unlimited amounts since their protein content is low. After a year of step-wise reductions in protein intake along with increase in the phenylalanine-free protein formula, Katie’s blood phenylalanine level had decreased by 63%. Our goal was exceeded! Behavior problems were much less severe. Katie showed an interest in grooming and started to sing. Katie is now taking a lower maintenance dose of the phenylalanine-free protein formula. She no longer requires flavoring and can drink it straight in water. Large salads and extra fruits keep her busy and content at mealtimes. Katie has maintained the May 1998 blood level which, although low for her is still 2 to 3 times higher than in persons without PKU. Ridding her body of the high toxic level of phenylalanine has transformed Katie emotionally, physically, and functionally. Although she has not yet reduced her weight, her quality of life has improved tremendously.  She sleeps more at night. Her attention span has increased so that she can perform household skills such as folding laundry, food preparation, grooming and hygiene. Katie especially enjoys spending time out-of-doors.

What is in the future for Katie? Since she accepts the diet and protein formula, these have become non-issues. She will continue to explore plant food cuisine and low protein grains, while focusing on other areas of her life, developing skills, hobbies, and perhaps reducing her weight.

Introducing a phenylalanine-restricted diet in an untreated adult with PKU is indeed challenging, but very rewarding. It requires utmost care and consideration of all persons involved in the caretaking of the individual. Everybody must be fully informed of the goals of the diet, as well as its positive and negative aspects. In addition to the diet, consistent active treatment program, community integration, normalization, positive reinforcement, redirectional technique and utilizing interdisciplinary team approach (OT, PT, Recreational, Speech, Behavioral/Psychological, Nursing) are paramount to the successful adaptation of Katie to a community residential home.

We would like to acknowledge the support, partnership and dedication of the Treatment Team, especially Vagthol’s direct care staff, without whom we could not have made a difference in Katie’s life.


Ann C. Seisa, R.N., BSN, Licensee,

Vagthol’s Residential Care Center, Inc.

Carolyn Corder, MS. RD, Consultant

Richard Koch, M.D., USC School of Medicine