Glycine encephalopathy
| Disorder | |
|---|---|
| OMIM #: | #605899 (Click to access OMIM database) |
| Disorder: | Glycine encephalopathy |
| Also known as: | GCE HYPERGLYCINEMIA, NONKETOTIC NKH |
| Clinical | |
| Phenotype: | encephalopathy, developmental delay, lethargy, seizures, hypotonia, myoclonus, aggressive behaviour, impulsitivity, hyperglycaemia, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GLDC |
| Base Change: | c.128delA |
| Amino Acid Change: | p.Asp43Alafs*48 |
| 2 Amish | |
| Gene: | GLDC |
| Base Change: | c.2186delC |
| Amino Acid Change: | p.Ala729Glufs*3 |
| 3 | |
| Gene: | AMT |
| Base Change: | C>T, at nucleotide 230 |
| Amino Acid Change: | ser 77 --> leu |
| Last updated: | 2022-11-04 |
| References |
|---|
| Crowgey EL, Washburn MC, Kolb EA, Puffenberger EG. (2019) Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. J Mol Diagn Jul;21(4):687-694. PubMed ID: 31028937 |
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