From: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Disease name | Alternative disease name | Disease abbreviation | Gene symbol | Mode of inheritance | Affected enzyme | Disease OMIM# |
---|---|---|---|---|---|---|
Autosomal dominant GTP cyclohydrolase I deficiency | Segawa disease Dopa-responsive dystonia | AD-GTPCHD, DYT5a | GCH1 | AD | GTPCH I | 128230 |
Autosomal recessive GTP cyclohydrolase I deficiency | – | AR-GTPCHD, DYT/PARK-GCH1 | GCH1 | AR | GTPCH I | 233910 |
6-pyruvoyl-tetrahydropterin synthase deficiency | – | PTPSD, DYT/PARK-PTS | PTS | AR | PTPS | 261640 |
Sepiapterin reductase deficiency | – | SRD, DYT/PARK-SPR | SPR | AR | SR | 612716 |
Q-dihydropteridine reductase deficiency | – | DHRPD, DYT/PARK-QDPR | QDPR | AR | DHPR | 261630 |
Pterin-4-alpha-carbinolamine dehydratase deficiency | Primapterinuria | PCDD | PCBD1 | AR | PCD | 264070 |