Glutaric Aciduria III
| Disorder | |
|---|---|
| OMIM #: | #231690 (Click to access OMIM database) |
| Disorder: | Glutaric Aciduria III |
| Also known as: | GA III, GLUTARYL-CoA OXIDASE DEFICIENCY |
| Clinical | |
| Phenotype: | glutaric acidura, low 3-hydroxyglutarate, many asymptomatic patients |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | C7orf10 (SUGCT) |
| Base Change: | C>T, at nucleotide 895 |
| Amino Acid Change: | arg 299 --> trp |
| Last updated: | 2022-11-04 |
| References |
|---|
| Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. (2008) Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet 83(5):604-9. PubMed ID: 18926513 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 1963056 |
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