Mitochondrial DNA depletion syndrome 4A
| Disorder | |
|---|---|
| OMIM #: | #203700 (Click to access OMIM database) |
| Disorder: | Mitochondrial DNA depletion syndrome 4A |
| Also known as: | Alpers type, POLG related mitochondrial disorder |
| Clinical | |
| Phenotype: | ataxia, lactic acidosis, seizures, developmental delay, developmental regression, hypotonia, muscle weakness, hepatomegaly, liver disease, cirrhosis, abnormal bile ducts |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | POLG |
| Base Change: | G>A, at nucleotide 1399 |
| Amino Acid Change: | ala 467 --> thr |
| Last updated: | 2022-11-07 |
| References |
|---|
| Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. (2016) Mitochondrial respiratory chain disorders in the Old Order Amish. Mol Genet Metab 118(4):296-303. PubMed ID: 27344355 |
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