Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Table 1 Nomenclature of BH₄ disorders

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

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

ISSN: 1750-1172