Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency ... or mild phenylketonuria (21 patients), tetrahydrobiopterin significantly ...

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.

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 ...

Phenylalanine hydroxylase (PAH) deficiency ... Tetrahydrobiopterin (BH 4) is a necessary cofactor for PAH activity, and rare genetic defects in the pathway of BH 4 synthesis or recycling can ...