1.
Bahrain Medical Bulletin. 1985; 7 (3): 114-7
in English
| IMEMR
| ID: emr-5400
ABSTRACT
Two siblings with maple syrup urine disease [MSUD] are described here. The first patients was diagnosed rather late and second patient in the neoborn period. Both had signs of severe mental subnormality and cortical damage. They manifested with peculiar odour in the urine. The diagnosis of the disease was confirmed by plasma and urine chromatography. The two patients succumbed to the disease despite introduction of a special formula used in the treatment of this illness