title: Maple syrup urine disease: report of two cases.
abstract: 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.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
authors.forename: C Y
authors.initials: CY
authors.lastname: Yeung
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: H A
authors.initials: HA
authors.lastname: Kao
authors.forename: E Y
authors.initials: EY
authors.lastname: Shen
authors.forename: H C
authors.initials: HC
authors.lastname: Lee
authors.forename: C H
authors.initials: CH
authors.lastname: Lin
authors.forename: K J
authors.initials: KJ
authors.lastname: Hsiao
mesh_terms: D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000378:metabolism / Q000517:prevention & control; D008403:Mass Screening; D013624:Taiwan
chemical_list: D000597:Amino Acids, Branched-Chain