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GENATLAS PHENOTYPE
last update : 03/03/2007
Symbol MSUD1B
Location 6p22-p21
Name maple syrup urine disease
Corresponding gene BCKDHB
Main clinical features classic form: after a delay of five to seven days or later with breast feeding, onset by poor feeding and lethargy followed by weight loss, increased/decreased tone, ketosis and maple sugar (burnt odor) of urine, - elevated branched chain aminoacids and ketoacids in the plasma - leading to death in the first months of life if untreated . also intermediate form with elevated BCAA and neurologic impairment but not disastrous symptoms in the neonatal period,
Genetic determination
Related entries including thiamine responsive form
Function/system disorder metabolism/aminoacids
Type disease
Gene product
Name branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB)
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
various types   abnormal protein/loss of function mainoly, missense utations, R183P substitution prevalent in Askenazi Jews