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, hepatomegaly, cirrhosis, failure to thrive, ovarian failure, developmental delay, galactose-1-phosphate uridyltrasnferase deficiency, metabolic acidosis; 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: | asn 314 --> asp |
| Last updated: | 2022-11-04 |
| References |
|---|
| Reichardt J, Packman S, 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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