It is most commonly caused by an autosomal dominant GTP cyclohydrolase
1 (GCH1) gene defect, but deficiencies in tyrosine hydroxylase, sepiapterin reductase, or other enzymes involved in the biosynthesis of dopamine can also present similarly .
Neopterin is synthesised from GTP via GTP cyclohydrolase
Sauna therapy can act via two distinct mechanisms to raise the levels of BH4, acting in both cases by raising the levels of the enzyme GTP cyclohydrolase
I (GPCH), the first and rate-limiting enzyme in the de novo synthesis pathway for BH4.
Wang et al., "Coexpression of tyrosine hydroxylase, GTP cyclohydrolase
I, aromatic amino acid decarboxylase, and vesicular monoamine transporter 2 from a helper virus-free herpes simplex virus type 1 vector supports high-level, long-term biochemical and behavioral correction of a rat model of Parkinson's disease," Human Gene Therapy, vol.
DRD can be inherited as either an autosomal dominant or a recessive trait and is most often caused by autosomal dominant point mutations or, more rarely, deletions in the GCH1 (GTP cyclohydrolase
1) gene, which encodes the GCH1 enzyme.
The first step of the plant pterin branch is catalyzed by an unusual GTP cyclohydrolase
I (GTPCHI, Fig.
Multiple mRNAs from the Punch locus of Drosophila melanogaster encode isoforms of GTP cyclohydrolase
I with distinct N-terminal domains.
These diseases include: GTP Cyclohydrolase
I Deficiency (dopa responsive dystonia) and Tyrosine Hydroxylase Deficiency (both currently treatable), Aromatic L Amino Acid Decarboxylase Deficiency, and Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.
sauna therapy Acts to increase BH4 Trials availabiity; mechanism published on via increased synthesis MCS, FM and of GTP cyclohydrolase
Tetrahydrobiopterin is formed in a 3-step pathway from GTP and involves the activities of GTP cyclohydrolase
, 6-pyruvoyltetrahydropterin synthase, and sepiapterin reductase.
(11) described a putative association between an apparently common haplotype (15.4% of alleles in the study population) of the GTP cyclohydrolase
gene (dopa-responsive dystonia, GCH1) and lower degrees of persistent pain after back surgery.
A haplotype in the GTP cyclohydrolase
1 (dopa-responsive dystonia) gene (GCH1)  [(1), Fig.