Amish, Mennonite, and Hutterite
Genetic Disorder Database

Galactosemia

Disorder
OMIM #: #230400  (Click to access OMIM database)
Disorder: Galactosemia 
Also known as: GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY, GALT DEFICIENCY, GALACTOSEMIA, CLASSIC 
Clinical
Phenotype: Early symptoms: vomiting, diarrhea, jaundice, failure to thrive; Later symptoms: sudden death due to sepsis, cataracts 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: GALT
Base Change: A>G, at nucleotide 563
Amino Acid Change: gln 188 --> arg
2   Amish  
Gene: GALT
Base Change: A>G, at nucleotide 940
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  
Reichardt J, Packman S, and Woo S. (1991) Molecular Characterization of Two Galactosemia Mutations: Correlation of Mutations with Highly Conserved Domains in Galactose-1-Phosphate Uridyl Transferase. Am. J. Hum. Genet. 49: 860-867.
PubMed ID: 1897530 
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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