Amish, Mennonite, and Hutterite
Genetic Disorder Database

Succinylcholine sensitivity

Disorder
OMIM #: #617936  (Click to access OMIM database)
Disorder: Succinylcholine sensitivity 
Also known as: BUTYRYLCHOLINESTERASE DEFICIENCY
APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1 
Clinical
Phenotype: respiratory distress, extended apnea after administration of surgical muscle-relaxant succinylcholine 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: BCHE
Base Change: A>G, at nucleotide 293
Amino Acid Change: asp 98 --> gly
2   Hutterite  
Gene: BCHE
Base Change: G>A, at nucleotide 1699
Amino Acid Change: ala 567 --> thr
Last updated: 2018-12-12 

References
Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B. (2007) Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene. Mol Genet Metab 90(2):210-6.
PubMed ID: 17166756 

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