1.09.a
Disorders of mitochondrial nucleotide pool maintenance
- Mitochondrial deoxyguanosine kinase deficiency (Mitochondrial DNA depletion syndrome type 3; arPEO with mitochondrial DNA deletions type 4; noncirrhotic portal hypertension)
- Mitochondrial thymidine kinase deficiency (Mitochondrial DNA depletion syndrome type 2)
- Mitochondrial UMP-CMP kinase 2 deficiency
- MPV17 deficiency (Mitochondrial DNA depletion syndrome type 6)
- Mitochondrial ribonucleotide reductase small subunit deficiency (Mitochondrial DNA depletion syndrome type 8; adPEO with mitochondrial DNA deletions type 5)
- Thymidine phosphorylase deficiency (Mitochondrial neurogastrointestinal encephalopathy syndrome)
- SAMHD1 deficiency (Aicardi-Goutières syndrome type 5; stenosis, aneurysm, moyamoya and stroke – SAMS association)
