Maple syrup urine disease. Two cases in Israel

The first two patients in Israel in whom the diagnosis of maple syrup urine disease was confirmed are reported. The clinical course of the disease and therapeutic procedures during the first months of life are described. The age on onset and the severity of neurological symptomatology were different in the two patients. In the first, blood leucine levels were extremely high, and drastic procedures, such as peritoneal dialysis, were employed in addition to dietary treatment to lower the leucine levels to normal and to improve the patient's clinical condition. In the second infant, blood leucine levels were moderately elevated and the disease was controlled by dietary treatment alone. Neither of the patients responded to thiamine hydrochloride treatment. The two infants probably represent examples of different genotypes of the classic form of maple syrup urine disease.