MAPLE SYRUP URINE DISEASE- A CASE REPORT

Ten days old girl baby was hospitalized for lethargy and refusal of feeds of one day duration. She is a fourth born child to a second degree consanguineous parents and her elder brother died in neonatal period and the other seven year old brother has developmental delay with seizures. She has one normal male sibling of 3 years age. She was apparently well since birth and was found to be lethargic with shallow breathing, intermittent dystonic posturing and a fruity body odor, on admission. She needed respiratory support and a high rate of glucose infusion to maintain euglycemia. Sepsis work up was negative. Initial evaluation showed increased anion gap metabolic acidosis with increased blood ammonia level. Blood for tandem mass spectrometry, urine for organic acids and blood amino acidogram all showed reports suggestive of Maple syrup urine disease. She improved with special diet devoid of branched chain amino acids and mega dose thiamine therapy