Disorders of leucine, isoleucine and valine metabolism (maple syrup urine disease)
Vulović, D.; Vilhar, N.; Hajduković, R.; Marjanović, B.; Stojanović, L.
Srpski Arhiv Za Celokupno Lekarstvo 103(5): 419-436
1975
ISSN/ISBN: 0370-8179 PMID: 1188483 Document Number: 86120
The patients studied were a newborn infant with maple syrup urine disease (MSUD), a 5-year-old girl with episodes of ketotic hypoglycaemia and 3 epileptic children on ketogenic diets who had low serum alanine with high leucine, isoleucine and valine. Values for those 4 amino acids in plasma were estimated in each, after overnight fasting, except in the second patient who was starved for 36 h. For the infant with MSUD all amino acids in plasma and cerebrospinal fluid (CSF), and the ratios between plasma and CSF are shown also. The diagnosis was made early and diet treatment and exchange transfusions began in the second week of life. Although the branched-chain amino acids in blood decreased progressively during treatment the clinical course was not much improved. Glutamine as well as alanine in plasma was low, and glutamic and aspartic acids were absent from CSF. Ammonia was high in plasma and especially in CSF, where it reached 106 mu g/100 ml (normal not over 10 mu g/100 ml). The child was removed from hospital by the parents and died. The metabolic basis of the condition is discussed.