The N-hydroxycinnamide moiety is identified as critical for potent and tetrahydrobiopterin-competitive inhibition of phenylalanine hydroxylase ... fumarylacetoacetate hydrolase, an enzyme in ...

Yes, I do think we need non-glucocorticoid forms of therapy to treat 21-hydroxylase deficiency congenital adrenal hyperplasia. The most common form of congenital adrenal hyperplasia (CAH ...

The most common type of CAH is 21-hydroxylase deficiency 1; for the remainder of this review, CAH indicates CAH due to 21-hydroxylase deficiency. CAH is a disease of multiple hormonal imbalances.

Panel F shows sperm counts. Surgical adrenalectomy has been used to restore fertility in women with 21-hydroxylase deficiency. 5 Mitotane can be used as a last resort in men with 21-hydroxylase ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...