TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Deficiency of reductase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 GeneticVariation disease BEFREE Examples are drawn from Komrower's description of treatment of homocystinuria and the author's trials of treatment in bile acid synthesis disorders (3β-hydroxy-Δ<sup>5</sup> -C<sub>27</sub> -steroid dehydrogenase deficiency and Δ<sup>4</sup> -3-oxosteroid 5β-reductase deficiency), neurotransmitter amine disorders (aromatic L-amino acid decarboxylase [AADC] and tyrosine hydroxylase deficiencies), and vitamin B6 disorders (pyridox(am)ine phosphate oxidase deficiency and pyridoxine-dependent epilepsy [ALDH7A1 deficiency]). 31222759 2020