M S U D Newsletter Volume 19 #2 Section 2

I have been interested in newborn screening since our son Jordan was diagnosed with MSUD 12 years ago. Ohio was not screening newborns for MSUD at that time. (Screening for MSUD in Ohio started in January 2001). I felt very angry after learning that screening was possible for MSUD, and Jordan suffered needlessly as a result of a delayed diagnosis.

Initially, I was only interested in advocating for MSUD screening. However, once I met children with other diseases who suffered as a result of the lack of screening, my vision expanded. I now know that it is essential for all babies to receive comprehensive screening to ensure their well being.

Several private labs do comprehensive screening—it is possible to screen for 30 or more disorders. Also, several state labs offer comprehensive screening to all the babies born in their states. Most state labs, however, continue to screen for 4 to 8 different diseases. MSUD is screened for in only 21 states.

The first national meeting regarding the use of tandem mass spectrometry (MS/MS) for newborn screening was held in San Antonio, Texas in June 2000. At that time, three states (Massachusetts, North Carolina, and Wisconsin) and two private institutions (NeoGen Screening and Baylor Institute of Metabolic Diseases) were using MS/MS for newborn screening. Since June 2000, several state programs (Iowa, Minnesota, Ohio, and South Carolina) and one private institution (Mayo Clinic) have become operational. There are several states that are in various stages of adding MS/MS technology—California, Illinois, New Jersey, and New York. In addition, most babies in Pennsylvania receive comprehensive screening through NeoGen Screening.

In September 2001, I had the privilege of attending a newborn screening conference in Madison, Wisconsin titled, “Enhancing the Implementation of Tandem Mass Spectometry for Newborn Screening Laboratories.” The meeting was hosted by the Wisconsin State Laboratory of Hygiene.

The purpose of the meeting was to share experiences with using MS/MS technology. Speakers shared their expertise on a number of issues including: implementation of MS/MS technology, follow-up plans, diagnosis, and treatment of the disorders identified by tandem mass spectrometry.

Many professionals involved with newborn screening from all over the country, as well as many international lab directors, were present. There were only three parents present—Trish Mullaley, PKU mom from Massachusetts representing the National Coalition for PKU and Allied Disorders, Tera Mize, from Georgia representing Saving Babies through Screening (formerly Tyler for Life), and myself representing the MSUD Family Support Group.

The first day (September 10) was packed with information. I had an opportunity to meet a number of state lab directors and others from the private sector. That evening, we toured the Wisconsin Newborn Screening Lab.

The following day (September 11), the meeting barely got started when we learned of the terrorist attack in NewYork City. As you can imagine, the tone in the room changed dramatically after the announcement. We were dismissed for an hour or two to digest the news. Like many of you, I was glued to the TV as I watched the events unfold. Suddenly, newborn screening, and most everything for that matter, seemed very unimportant. All I wanted to do was go home. We were told no planes were flying and no trains were available for transportation. I was fortunate, however, to find space in a rental car that was heading for Columbus. The majority of the meeting participants were from other states or countries, and many did not have transportation home. The meeting continued for those who were staying, but many participants left early as opportunities arose for transportation.

I really enjoyed the meeting in spite of missing most of the second day. I encourage all of you to question your state lab. Do they have MS/MS equipment? If so, where are they in the process of implementing MS/MS screening for newborns? To find out which disorders your state screens for, see: www.savebabies.org

We were blessed with the birth of our 3rd grandson on Jan. 20, 2002. This gave us another opportunity to observe the process of newborn screening. If our grandson had been at high risk, we would have had him checked through the Clinic For Special Children in Pennsylvania at 24 hrs. of birth or sent a blood test immediately after birth to the lab in Columbia, Missouri for DNA testing. With either of these tests, results are available the next day—at two to three days of age. Instead, we made sure he was tested for 30 diseases by Neo Gen Screening in Pittsburgh, Pennsylvania as well as through our Indiana state screening program which includes MSUD.

One and one half years ago when our granddaughter was born, it took five days for the blood sample to reach the laboratory in Indianapolis. This time, with our grandson, blood was taken and sent to the state lab via mail from our local hospital two days after birth. The state received it 6 days later. Both times the test results were available from the state lab the following day. They assured me that a positive result would be faxed immediately to the doctor. However, since both grandchildren’s tests were negative, they were mailed to the local hospital where the doctor picks them up when he makes his rounds and the results are then reported to the parents. Our son and his wife received our granddaughters report two weeks after birth and our grandson’s lab report four weeks after birth. The most important is the return time for a positive test—possibly the earliest for our grandson would have been at 8 days of age. Is this acceptable?

Blood was taken from our newborn grandson for the Neo Gen screening test on the third day. (The instructions say the “ideal time to take the blood is between 24-48 hours of age, as close to 48 hours as possible.”) We sent the sample via FedEx the same day it was taken. Neo Gen received it the following day, and the results were available the 5th day. However, the instructions say, “Abnormal results are available 3 working days after the receipt of the sample and are called directly to your physician. Normal results are mailed to your physician. It may take 2 weeks for them to receive the mailed results.” If we had sent the specimens via mail as instructed by Neo Gen, the results would have been delayed several days.

Neo Gen has 3 testing options. (1)The MS/MS (45 disorders for $24.50); (2) Supplemental packages only available for children less than 7 days of age (55 disorders for $49.50); (3) High risk screening for older or ill children (65 disorders for $59.50). [Check their web site: www.neogenscreening.com or e-mail: info@neogenscreening.com.]

Recently, near Philadelphia, parents were notified when their son was 10 days of age that he had MSUD. This child was detected through the Pennsylvania state screening program. This time frame seems to be typical of current screening programs. Although certainly better than no screening, this turn around time issue needs to be addressed. Is the big issue the cost of overnighting specimens? How does that cost compare with the risk of brain damage caused by several days of delay?

200 gm wheat starch	200 gm water
1 tsp. yeast	¼ c. melted butter
1½ t. methycellulose	1 T. olive oil
1 T. psyllium fiber	½ tsp. garlic powder
1 T. sugar	1 T. parsley
½ tsp. salt

Combine first 6 ingredients in a mixing bowl. Add water and mix 2 minutes. Let dough rest for 15 minutes. On a well greased cookie sheet, press or roll out dough to about ½ inch thick. Cut with pizza cutter into 10 strips. Melt butter and combine with oil, garlic powder and parsley. Dip each bread stick into the butter mixture and return to baking sheet. Let rise 30 to 40 minutes. Bake at 350° for 15 minutes. Makes 10 bread sticks.

	Protein	Leucine	Calories
Per stick:	.17 gm	.16 mg	123

1½ c. warm water	½ c. melted butter
1 T. yeast	3 T. olive oil
1 T. oil	3 T. Parmesan cheese
1 T. sugar	2 T. parsley
1¼ tsp. salt	1 tsp. garlic powder
4 c. flour, divided	Additional Parmesan cheese

Combine first five ingredients and 2 cups flour in a mixing bowl; mix well. Gradually add remaining flour to make a soft dough; let rise ½ hour. Roll out dough on a greased baking sheet (½ to ¾" thick). Combine butter, oil, cheese, garlic powder, and parsley. Cut dough into strips with pizza cutter and dip into the melted butter mixture. Return to baking sheet and let rise 30 to 40 min. Sprinkle with additional cheese and bake at 350° for 15 to 18 minutes.

1 T. butter	2 T. canned, whole kernel corn
¼ c. chopped onion	1½ tsp. taco seasoning
1 c. tomato sauce	2 T. shredded low protein cheddar cheese*
1 ¾ c. water	6 Nacho chips
¼ c. uncooked low protein elbow macaroni

Melt butter and saute onion until tender. Add tomato sauce and water. Bring to a boil and add elbows, corn and taco seasoning. Simmer 15 minutes. Ladle one serving into a bowl and top with 3 nacho chips and 1 tablespoon cheese. 2 servings.

	Protein	Leucine	Calories
Per recipe:	2.7 g	232 mg	332
Per serving:	1.35	116 mg	166

1½ lb. ground beef	1 package taco seasoning
½ c. chopped onion	1 to 2 c. water
1 (28 oz.) can whole tomatoes, undrained	Salt & pepper to taste
1 (14 oz.) can kidney beans, undrained	1 c. grated cheddar cheese
1 (17 oz.) can whole kernel corn, undrained	Sour cream
1 (8 oz.) can tomato sauce	Nacho chips

Brown beef and drain: add onions and cook until onions are tender. Add all but last three ingredients. Simmer 15 minutes. Ladle into bowls and top with cheese, sour cream and nacho chips. Makes 6 to 8 servings.

2 c. cooked low-protein pasta	1 T. sliced green peppers
⅓ c. cream of mushroom soup, undiluted	Dash garlic powder and oregano
¾ c. pizza sauce	2 T. shredded low-protein cheese*
2 T. sliced mushrooms

Combine all ingredients except cheese. Place in a greased casserole dish. Top with low protein cheese. Bake at 250° for 20 to 25 minutes. Makes 2 servings.

	Protein	Leucine	Calories
Per recipe:	4.1 gm	210 mg	504
Per serving:	2.1 gm	105 mg	252

2 lbs. ground beef	½ c. Parmesan cheese
1 can cream of mushroom soup, undiluted	3 oz. pepperoni
32 oz. pizza sauce	12 oz. spiral noodles, cooked
¼ t. garlic powder	2 c. shredded mozzarella cheese,
¼ t. oregano	divided

Brown ground beef and drain. Combine with rest of ingredients except reserve ½ cup mozzarella cheese. Put mixture into a greased 3 qt. casserole dish. Sprinkle remaining ½ cup cheese on top. Bake at 350° for 30 to 45 minutes.

Note: This makes a large amount, approximately 12 servings. Divide into other dishes and freeze for later meals. We liked this dish with sauted onions, green peppers and mushrooms added. J.B.

Bake a potato until soft and then mash into a patty in a hamburger press (leave skin on). Fry in oil and sprinkle with onion and/or garlic seasoning.

We try our best to see that the nutritional values listed with the recipes in this Food News section are accurate. We are not responsible for errors. Contact your clinic before making diet changes.

Dietary Specialities is now operating as a new company carrying a full line of the products they had under MenuDirect, including the much in demand Imitation Macaroni and Cheese and their frozen foods. They have a new, improved Low Protein Cheese Sauce Mix, but it is higher in leucine.

Cambrooke Foods has been developing low-protein food products since 1992. The mother of two children with classic PKU created Cambrooke Foods to offer wholesome and delicious new alternatives for low protein diets. New products now available include, cous cous, orzo (a pasta product similar to low protein rice), chocolate chip bagels, protein-free chocolate bars, and chocolate covered raisins. New Variety Packs that allow you to purchase smaller quantities are available too. Cream cheese and home-style, white, sliced bread are the very latest additions to their product line!

More new products will be available soon. To receive product updates when you become a member of Cambrooke’s mailing list: send an e-mail through their web site. Call for a list of protein and leucine values of Cambrooke products.

They have lowered their shipping rates. Special “dry ship” rates are also available to accommodate orders shipped with non-refrigerated items only.

A “Green Light” program has been set up so that customers, whose insurance providers have given prior approval for the purchase of Cambrooke Foods, can have the agency billed directly for their food purchases. Call for more information on this program.

Loprofin packaging has a new face! SHS North America is in the final stages of changing the appearance of their Loprofin products with new, attractive packaging and easy to read nutrition information. No changes have been made to the products.

Have you tried their Low Protein Drink Mix? It is a good milk substitute to drink, serve with LoProfin Cereal Loops or use in baking and cooking. It has 66.5 mg of leucine and 95 calories per cup.

Med-Diet has a PKU product list of low protein products. They include a large variety of Aproten products, Kingsmill and Med-Diet products along with Hunts Lemon pudding and Juicy Gels. They also have Variety Packs making it possible to try several items without ordering large quantities of one item.

Protein values are available on most of their products and leucine values are given for their cheddar cheese sauce, Kingsmill cookies and several Aproten products. They also have a paper with cooking instructions for the various types of Aproten imitation macaroni products.

Ener-G Foods has several new items added to their many low protein products. They have a new line of pasta. It comes in five shapes: lasagna, macaroni, large and small shells, and spaghetti. It holds its shape well even when slightly overcooked. They also have cinnamon rolls, chocolate cinnamon rolls, plain rice donuts, yeast free sweet bread and a Lo Pro Baking Mix which can be used in bread machines.

Ross Products Division and Mead Johnson changed some of their Metabolic Medical Foods (formulas). SHS North America has changed the labels on their Maxamaid and Maxamum products, but the products themselves remain the same. Minor changes have been made in their Analog infant formula.

Pleased check with your dietitian if you have questions about the formula you have received, or if you would like to try another formula for your child. Always check your cans when you receive them, and be sure they are the correct product. These companies are always glad to answer any questions on their products.