Tyrosinemia Type 3
| Disorder | |
|---|---|
| OMIM #: | #276710 (Click to access OMIM database) |
| Disorder: | Tyrosinemia Type 3 |
| Also known as: | 4-@HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY, 4-@HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY |
| Clinical | |
| Phenotype: | seizures, elevated blood tyrosine levels, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | HPD |
| Base Change: | G>A, at nucleotide 85 |
| Amino Acid Change: | ala 29 --> thr |
| 2 Unknown / Other Mennonite | |
| Gene: | HPD |
| Base Change: | A>G, at nucleotide 479 |
| Amino Acid Change: | tyr 160 --> cys |
| 3 Unknown / Other Mennonite | |
| Gene: | HPD |
| Base Change: | C>G, at nucleotide 1005 |
| Amino Acid Change: | ile 335 --> met |
| Last updated: | 2022-11-12 |
| References |
|---|
| Puffenberger EG. (2003) Genetic Heritage of the Old Order Mennonites of Southeastern Pennsylvania. American Journal of Medical Genetics Part C 121C: 18-31. PubMed ID: 12888983 |
| Scott CR. (2006) The Genetic Tyronsinemias. American Journal of Medical Genetics Part C 142C: 121-126. PubMed ID: 16602095 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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