A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus th
hepatocerebrale vorm van syndroom van mitochondriale deoxyribonucleïnezuurdepletie door deoxyguanosinekinasedeficiëntie