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Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
rareAny mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.
- Identifiers
- MONDO:0009636 OMIM:251880Orphanet:279934
- Causal genes
- DGUOK
- Part of
- Inborn disorder of purine metabolismMitochondrial DNA depletion syndrome, hepatocerebral form
- Also known as
- DGUOK mitochondrial DNA depletion syndrome · mitochondrial DNA depletion syndrome 3 · mitochondrial DNA depletion syndrome caused by mutation in DGUOK · mitochondrial DNA depletion syndrome type 3 · MTDPS3
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