MIDTERM OUTCOME OF 2 CASES OF MAPLE-SYRUP -URINE-DISEASE - EFFECT OF LIVER-TRANSPLANTATION

Background. - Dietary treatment of maple syrup urine disease remains d ifficult; chronic nutritional support in the child does not always avo id acute crises so that liver transplantation may represent an alterna te choice in some cases.Case reports. - Two gipsy cousins were born by an interval of 4 days; both had maple syrup urine disease and were si milarly treated from the first days of life. They were given exchange transfusions followed by diet restricted in the branched chain aminoac ids, maintaining normal growth and plasma leucine concentrations under 7 mg/100 ml. Laura, at 10 years, was retarded at school. Compliance t o school attendance was limited by her diet problems. Helen suffered a t 7 yr 3 mo from liver failure due to hepatitis A virus infection whic h required liver transplantation. Protein intake was normal 1 week lat er At 10 years, she presented with the same degree of school retardati on as her cousin, and was placed in the same class. Conclusion. - Live r transplantation may be effective for treating metabolic problems in MSVD without significative difference between outcome post classic tre atment or post liver transplantation.