Mitochondrial DNA depletion syndrome 3 (hepatocerebral form)
| Disorder | |
|---|---|
| OMIM #: | #251880 (Click to access OMIM database) |
| Disorder: | Mitochondrial DNA depletion syndrome 3 (hepatocerebral form) |
| Also known as: | MTDPS3 |
| Clinical | |
| Phenotype: | hyperreflexia, irritability, hypotonia, cystathioninuria, hepatomegaly, depletion of mtDNA in liver tissue, liver fibrosis, cholestasis, cirrhosis, demylelination, death by 12 months of age from liver disease |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | DGUOK |
| Base Change: | G>T, at nucleotide 763 |
| Amino Acid Change: | asp 255 --> tyr |
| Last updated: | 2024-09-24 |
| References |
|---|
| Tadiboyina V, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, and Hegele R. (2005) Novel Mutation in DGUOK in Hepatocerebral Mitochondrial DNA Depletion Syndrome Associated with Cystathioninurea. Am J Hum Genet 135A: 289-291. PubMed ID: 15887277 |
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