Treatment of the acute episode:
- Acute acidosis is treated to restore normal pH.
- Because this is a protein intolerance disease, protein is cut from the diet .
- High doses of intravenous fluid, sugar and fat are given to prevent dehydration and provide energy to stimulate protein synthesis, which lowers the levels of the amino acids which cannot be broken down.
- Peritoneal dialysis or hemodialysis are used to remove the high levels of amino acids.
- A special diet free of branched-chain amino acids is started immediately.
Long range treatment requires a special diet. Strict compliance is necessary to prevent neurological damage. This requires close supervision by a registered dietitian and a physician, and parental cooperation. The diet includes a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine. Frequent blood testing for amino acid levels allows doctors and dieticians to adjust the balance of these branched-chain amino acids so that they are neither deficient nor in excess. Affected people must remain on this diet permanently. |
