Glycogen storage disease Ia
| Disorder | |
|---|---|
| OMIM #: | #232200 (Click to access OMIM database) |
| Disorder: | Glycogen storage disease Ia |
| Also known as: | GSD1A Von Gierke Disease Hepatorenal form of glycogen storage disease glucose-6-phosphatase deficiency hepatorenal glycogenosis |
| Clinical | |
| Phenotype: | hypoglycemia, hepatomegaly, growth deficiency, motor delay, renal hyperfiltration |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | G6PC |
| Base Change: | C>T, at nucleotide 1039 |
| Amino Acid Change: | gln 347 --> term |
| Last updated: | 2022-12-07 |
| References |
|---|
| Scott EM, Wenger OK, Robinson E, Colling K, Brown MF, Hershberger J, Radhakrishnan K. (2022) Glycogen storage disease type 1a in the Ohio Amish. JIMD Jun 21;63(5):453-461. PubMed ID: 36101819 |
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