Amish, Mennonite, and Hutterite
Genetic Disorder Database

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: ataxia, seizures, elevated blood tyrosine levels, neurologic abnormalities, no liver problems, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

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: 2018-07-20 

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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