Presented by Richard Hillman, M.D. - Columbus, Missouri

Dr. Hillman opened with the statement, "We want you to know more than your doctor." He reported on a research project by Dr. Elsas from Atlanta, Georgia. At the Toronto Symposium, Dr. Elsas had a number of children with MSUD drink a small amount of leucine and then blow into a balloon. He measured the carbon dioxide expired. (See the Dec. '92 issue of the Newsletter.)

The children had a very low amount of leucine in their breath compared to adults without MSUD. Unfortunately, carriers of the MSUD gene could not be readily identified, because their levels were too close to normal. The enzyme level correlated with the leucine level in the breath, but the test is not practical to use except to possibly help establish early dietary treatment. It seems more important to adjust the diet to the individual than to the level of enzyme activity.

Since the enzyme block is in the conversion to keto acids, the levels of keto acids seem to be more important, but it is easier to measure BCAA (branched-chain amino acids). The BCAA need to be turned back into their keto acids so the body can use them or eliminate them via the urine. The amino acids, alanine and glutamine, add ammonia to the system helping to turn keto acids back into amino acids. MSUD formulas should be supplemented with these two amino acids.

Formula is therapeutic and should be given when sick. It can be given with an NG tube, IV, or central line (which can be used when administering TPN). Dialysis removes BCAA but does not remove their keto acids very well.

Questions from the audience

Q. Why isn't alanine and glutamine automatically added to the formula for all persons with MSUD?
A. Dr. Hillman recommends it. Glutamine is unstable and has a shelf life of 18 months. Glutamine loses one ammonia, causing a bad smell (thus the comment that it tastes bad). However, when refrigerated, it is kept more stable and doesn't have any flavor.

Q. Are doctors talking to each other about the different techniques for treating and managing MSUD?
A. Somewhat, but not very well.


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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