Abstract
Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia.
Highlights
Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia
Mitochondrial DNA may be required for diagnostic confirmation in atypical cases
Mitochondrial DNA depletion syndrome can affect one, muscle or liver, or multiple organs, and the liver is most frequently affected in DGK gene mutations
Summary
G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia. The diagnosis of mitochondrial cytopathy (MC) depends on a classical clinical presentation or phenotype, laboratory findings, and identification of ragged red muscle fibers in tissue biopsy.
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