OnlineIMD

9.1        Disorders of mitochondrial nucleotide pool maintenance

  • Type
    Group
  • Disease group(s)
    • 9         Disorders of mitochondrial DNA maintenance and replication
  • Child entries
    • Mitochondrial deoxyguanosine kinase deficiency
    • GABA transaminase deficiency
    • Mitochondrial thymidine kinase deficiency
    • Succinate-CoA ligase deficiency
    • Mitochondrial UMP-CMP kinase 2 deficiency
    • MPV17 deficiency
    • Mitochondrial ribonucleotide reductase large subunit deficiency
    • Mitochondrial ribonucleotide reductase small subunit deficiency
    • Thymidine phosphorylase deficiency
    • SAMHD1 deficiency