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, succinylcholine sensitivity, extended apnea after administration of surgical muscle-relaxant succinylcholine |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| 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: | 2022-11-12 |
| 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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