Presented by Holmes Morton, M.D. - Strasburg, Pennsylvania
Most of what is written about the care of children with MSUD stops at one month of age. There is little consensus on proper treatment of the child with MSUD. Dr. Morton is interested in writing a standard treatment protocol manual for doctors.
Protein tolerance is about 20 mg/kg from two years old until adolescence. It changes with the rate of growth; there is an increased need for leucine during growth spurts.
With increased physical activity, protein is broken down, causing fatigue, weakness and ataxia. This is due to the muscles depleting glycogen stores and breaking down stored protein for energy. It is best to use high fat foods prior or during strenuous activity to provide energy.
Burns are catabolic injuries and sunburns can also cause this breakdown of protein if adequate calories are not provided. Fasting, even overnight, causes protein to break down at the rate of 1gm/kg/day. All of this must be considered during sick days. During sickness the child is not growing and protein needs decrease. It is important to restrict activity during illnesses, provide adequate calories and make sure there are no long fast periods. Wake the child every few hours to give formula/calories.
The anesthesia used for surgery doesn't cause any changes in BCAA levels but should not be a kind that causes vomiting or paralysis of the intestine. In orthopedic surgeries there is the danger of immobilization. Not eating for 24 hours after surgery can start catabolism (the break down of protein). Head injuries and surgeries, and some medications used with head surgeries, cause extreme catabolic problems. In postoperative care, glucose and insulin IVs should be added to decrease leucine levels rapidly. Glucose suppresses the growth hormone.
Cerebral edema is not clearly understood and cannot be predicted by leucine levels. Dr. Morton has successfully used Phenobarbital, Manatol and glutamine to treat cerebral edema.
Glutamine is highly concentrated in muscle cells and inhibits muscle degradation in high concentrations (the cells don't grow unless there is a high concentration of glutamine). It is important for the immune system. Dr. Morton uses 200 to 500 mg/kg/day of glutamine when a patient with MSUD is sick. Sick people don't make glutamine as well and individuals with MSUD especially make less glutamine. They only get about 1/2 of the glutamine most people get in their diets. There is 4 mg/kg of glutamine in the Ketonix formulas; that is 1/2 the normal amount. Other formulas have even less.
Pancreatitis is recurring more often in patients with MSUD. Be on the lookout for pancreatitis, hypoglycemia and diabetes. When someone with MSUD exhibits sweatiness, a feeling of unease, and "the shakes," check the blood sugars. Dr. Morton does not believe that the MSUD formula necessarily causes hypoglycemia. Problems with thirst may indicate diabetes. Check for sugar in the urine.
Questions from the audience
Q. Dr. Morton, do you routinely supplement the MSUD diet with glutamine?
A. If there is great fatigue, poor appetite, or lack of energy, Dr. Morton will consider it. Glutamine will not hurt; it is available in health stores.
Therapy dilemmas of the older child with MSUD
- Written by Joyce Brubacher