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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
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 mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
| abnormal protein/loss of function
| mainoly, missense utations, R183P substitution prevalent in Askenazi Jews
| |