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Tanyia Abel, Pharm.D.
Pharmacy Manager
Mendota Heights, MN Branch
Coram, Specialty Infusion Services

Children and adults with inborn errors of metabolism such as Maple Syrup Urine Disease, Phenylketonuria (PKU), Mehtylmalonic Aciduria (MMA), among others, have special nutritional needs. Diet manipulation is a reality in the lives of these children and adults, requiring special metabolic formulas, low protein recipes, reading product labels and purchasing specialized low protein food products. In writing this article I recognized some similarities with my life.

My son was diagnosed with celiac disease when he was 18 months. Watching him fail to thrive and waste away before the diagnosis was found was heart breaking. I can only imagine what many of you have gone through in the diagnosis of MSUD, as doctors ruled out this and that until they finally found the culprit. Nick started his new diet and the turn around was amazing, as I believe it is for many of you. We read labels, purchase special foods, order special gluten free products that are kid friendly and draw labs annually to follow compliance of his diet. He attends a celiac camp for kids so he can participate in camp without worrying about the food, we go to support groups and have picnics to share recipes. One major difference is that if Nick were to become critically ill and require intravenous nutrition, the products available in hospital pharmacies would give him what he needs.

For patients with inborn errors of metabolism, intravenous nutrition is more complicated. Intravenous nutrition provides nutrients to the body when the gut can’t be used (unable to take the nutrition by mouth or tube). This can be life-saving for the MSUD patient. Total parenteral nutrition (TPN - dextrose, amino acids, lipids) is easily provided by hospital pharmacies when a normal formula is required. When patients with metabolic disorders such as Maple Syrup Urine Disease become critically sick and cannot take their nutrition by mouth or by tube, it becomes more of a crisis. There are no commercially prepared formulas that omit the amino acids not tolerated by patients with metabolic disorders. In those situations physicians try their best to manipulate the nutrition solutions, perhaps providing the lipid and dextrose portions of the solution without amino acids to meet some of the nutritional needs of the patient.

Pharmix™ is a special process which creates individual patient-specific amino acid profiles for intravenous use. The process of Pharmix™ compounding uses sterile commercial products and non-sterile powdered amino acids, dextrose and electrolytes. Components are mixed in a tank by trained, skilled technicians. The resulting solution is sterilized through filters to a volume that is required as ordered by the patient’s physician. There are a number of quality assurance steps and tests that are in place during compounding to assure a sterile end product. This type of compounding process can provide certain advantages over traditional TPN compounding for specific patient populations. Patients requiring a specific amino acid profile not available commercially, such as the omission of the branched-chain amino acids isoleucine, leucine and valine for MSUD, can be managed using this individualized amino acid mixing procedure. Alternatively, if a patient has an increase need for specific, individual amino acids addition adjustments can also be made.

Compounding from non-sterile powders requires specific quality assurance monitoring, which is regulated by the United States Pharmacopeia document 797. These regulations assure that high risk compounding meets all standards to protect patients receiving products compounded from non-sterile powders.

Most MSUD patients in crisis can be managed short term with commercially available products and may not have any need for this special compounding. In some cases, though, this technology can be life-saving. There are many success stories, such as helping a child through an MSUD crisis or supporting a bone marrow transplant patient’s nutrition until they are able to consume enough nutrition by mouth. Just knowing that this specialty amino acid solution is available is reassuring to families of critically ill patients.

This physician directed compounding is available from Coram, Specialty Infusion Services and you can direct questions to our Clinical Operations department, or access on line at www.coramhc.com. Coram staff work directly with the hospital pharmacy to help provide for the critically ill patient and continue to provide services in the home setting. Please feel free to contact me as well for questions at 1-800-542-6726.

I sincerely hope that none of you would ever have to call Coram, Specialty Infusion Services but if you do, know that we are continuing our efforts to maintain this orphan- like compounding in support of metabolically challenged patients.

CHANGE THE LIVES OF MSUD ADULTS AND CHILDREN

The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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