Two cases of maple syrup urine disease (MSUD) are reported. Case 1 was a 10-day-old male infant who had cyanotic episodes and recurrent generalized convulsions; the odor of burned sugar from the body and urine was also noted. Plasma and urine amino acid analysis disclosed a marked increase in the concentration of branched chain amino acids (BCAA). As a result of a BCAA-free diet and mega-doses of thiamine, the condition stabilized. However, the patient was lost to follow-up and expired at two months of age due to inadequate management. Case 2 was a 20-day-old female infant with poor feeding, vomiting for one week, generalized convulsions and a peculiar burned sugar smell from the body and urine. Based on our experience with the first case, MSUD was suspected, and the infant was treated accordingly. However, subsequent follow-up revealed delayed developmental milestones. We present the first two reported cases of MSUD in Taiwan and review the relevant literature.