Maple syrup urine disease in Chinese
Feng, K.P.; Chow, K.W.; Chan, Y.P.
Chinese Medical Journal 99(2): 119-120
1986
ISSN/ISBN: 0366-6999 PMID: 3093158 Document Number: 282611
We report the first two known cases of maple syrup urine disease (MSUD) in Chinese. Diagnosis was based on elevation of leucine, isoleucine, valine and their corresponding .alpha.-ketoacids in the plasma and urine. One patient had neurological symptoms and metabolic acidosis in the neonatal period while the other one was diagnosed on routine metabolic screening for mental retardation in early infancy. Neither responded to megavitamin therapy with thiamine. The occurrence of MSUD in Chinese calls for alertness to its diagnosis, conducting a pilot neonatal screening, nationwide provision of earliest antenatal diagnostic service within two days of birth and proper diet.