Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mitochondrial DNA depletion syndrome, Hepatocerebral form

Disorder
OMIM #: #609560  (Click to access OMIM database)
Disorder: Mitochondrial DNA depletion syndrome, Hepatocerebral form 
Also known as:  
Clinical
Phenotype: hyperreflexia, irritability, hypotonicity, secondary cystathioninuria, 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.

 

Mutations
1   Old Colony Mennonite  
Gene: Deoxyguanosine kinase (DGUOK)
Base Change: G>T, at nucleotide 763
Amino Acid Change: asp 255 --> tyr
Last updated: 2018-07-20 

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 

Back