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Table 1 Nomenclature of BH4 disorders

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
  1. Abbreviations in the table: AR Autosomal recessive, AD Autosomal dominant, DHPRD Dihydropteridine reductase deficiency, GCH1 GTP cyclohydrolase 1, GTPCHD Guanosine triphosphate cyclohydrolase I deficiency, PCBD1 Pterin-4 alpha-carbinolamine dehydratase, PCDD Pterin-4-alpha-carbinolamine dehydratase deficiency, PTPSD 6-pyruvoyl-tetrahydropterin synthase deficiency, PTS 6-Pyruvoyltetrahydropterin synthase, QDPR Quinoid dihydropteridine reductase, SR Sepiapterin reductase, SRD Sepiapterin reductase deficiency