Description
Sepiapterinreductase (SPR) belongs to the short-chain dehydrogenase/reductase (SDR) family and also reduces various exogenous carbonyl compounds including phenylpropanedione. SPR is an essential enzyme for the biosynthesis of tetrahydrobiopterin, an essential cofactor for aromatic amino acid hydrolases including tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. Defects in SPR cause DOPA-responsive dystonia defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures