The New England Connection for PKU and Allied Disorders held its 7th PKU & Metabolic Conference this past March in Taunton, MA. The President began the day with opening remarks. He also presented the past president with a plaque and a handmade quilt on behalf of the families of the organization in appreciation of her service and dedication.
| The first speaker was Bryan Hainline, MD, PhD, of Indiana University Medical Center. He spoke regarding the development of a New High Protein PHE Free Diet Supplement. The idea is to take a natural substance that is high in protein, like corn, alter it to remove the phenylalanine and allow it to grow in its natural state. This allows mass production and the ability to integrate the food throughout the diet in many different forms (cornmeal, rice, pasta). We hope to bring you information about this exciting development. |  |
Richard Koch, MD Children's Hospital Los Angeles, CA, spoke in the morning about the Positive Results of Late Treated PKU and again in the afternoon on Genotyping & Brain Imaging. Both segments stressed the importance of LOW phe levels and the damage to the brain and IQ loss uncontrolled levels may cause. Studies have shown that controlled but higher phe levels still impedes the prognosis for reaching the highest IQ potential. Individuals who returned to diet and maintained low levels, showed vast improvements.
Mary A., MD, New England Medical Center, Boston MA, discussed the need to expand Newborn Screening. This lead nicely into Sandy B.'s presentation on the National Coalition for PKU & Allied Disorders and its mission. A group of about 25 people, from parents, organizations, research companies, and medical professionals met the night before the conference to discuss newborn screening and Tandem Mass Spectrometry. Tandem Mass Spec. is capable of screening for an abundance of inborn errors of metabolism. The National Coalition is being formed to improve the newborn screening process. You will hear more on Illinois involvement at the Annual Meeting as the new effort gets off the ground.
It was then time for small group discussions. The groups were divided by age groups, I sat in the 3 to 5 year olds and the discussion was primarily focused on moving from a bottle to a cup. Most of the advice given was do it gradual with small amounts of formula from a cup and increase the amount served from the cup little by little until he or she is drinking all of it from the cup. Also to make the change early, and use a open top clear cup so that all of the senses are introduced to the smell and taste of the formula as quickly as possible.
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After lunch, R. Michael Blaese, MD Chief of Clinical Gene Therapy Branch, National Institute of Health, Bethesda MD shared developments in Gene Therapy. In summary, instead of adding or replacing the deformed gene he discussed correcting the deformity or genetic spelling. The process has been successful in bacteria and plants. Studies have shown the mutation to be corrected permanently and without altering any other chromosome. Because this is a permanent repair to the affected gene, future offspring would now be passed a normal gene hence forth no PKU. Studies on cells should be complete by late summer and clinical trials are set to begin this fall. The testing has thus far been with a different disease, however due to the molecular structure it is expected to be effective in PKU as well as other genetic metabolic disorders. |
Fran Rohr, MS, RD Children's Hospital Boston, MA discussed PKU formulas and their nutritional attributes and gave a Professional View of Tyrosine. In demonstrating how the body carries Tyrosine to the brain, she clearly expressed the importance of Tyrosine in PKU. Because individuals with PKU cannot convert Phenylalanine to Tyrosine they have more phenylalanine to begin with. Phenylalanine and tyrosine are both transported to the brain however someone with PKU does not transport them equally. This affects the ability to get tyrosine where it needs to go. Tyrosine is converted to melanin which affects pigmentation and to dopamine (a neurotransmitter that regulates emotional response and complex.
Susan Waisbren, PhD, Children's Hospital, Boston MA, gave a Maternal PKU Update outlining the positive results of obtaining strict metabolic control prior to conception, the decline in successful outcomes if control is reached after conception, and the greater decline if control is reached 6-10 weeks after conception.
A PKU panel made up of young men and woman approximately 15-30 years old answered questions from the audience about their dietary habits. And Diane S., a PKU mom shared quick tips and easy recipes.
| Throughout the day raffle tickets, and homemade foods were sold. The products normally available thru the New England Connection were also available (see list below). I purchased a Bagel maker, very nice and smaller than my bread machine, and the No-Mess Dough Board which is very neat. It is a plastic board that looks a lot like a cutting board but lighter in weight. It comes with 2 covers that pull over the board, like an ironing board cover, and a rolling pin with a sleeve that pulls over it. Nothing sticks to it. The covers are machine washable and it comes with an extra. |  |
To order, any of these listed products send check payable to New England Connection, 5 Jones Lane, East Sandwich, MA 02537.
Ohaus LS2000 gram scale - $85.00
Polder 936-90 gram scale - $40.00
Breadman TR560 bread machine - $90.00
Salton Maxim Bagel Maker - $78.00
Salton Maxim Pizza Maker - $73.00
Salton Maxim Donut Maker - $27.00
Thundermixer - $8.50
No-Mess Dough Board - $22.00
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Press Spring 1999
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