Tyrosine hydroxylase deficiency (THD) is a neurometabolic genetic disorder that has so far only been diagnosed in 50 people worldwide. The symptoms include motor and cognitive impairments, such as ...

In the body phenylalanine is metabolized by hydroxylation of phenylalanine to tyrosine by phenylalanine hydroxylase (PAH). When there is phenylalanine hydroxylase deficiency the blood and plasma ...

in the adrenal gland from a patient with 21-hydroxylase deficiency (×40). Chromaffin cells were stained with anti–chromogranin A. Panel C shows staining with anti–tyrosine hydroxylase ...

Subsequently, the same investigators showed that the activity of phenylalanine hydroxylase is negligible ... that there may also be a slight deficiency of the tyrosine-oxidizing enzymes.

Her genetic condition – tyrosine hydroxylase deficiency – means her body does not make enough dopamine, a chemical crucial to muscle and brain function. However, it can be treated by topping ...

The coarse, short, sparse, and twisted hair is distinctive and is due to tyrosine hydroxylase deficiency, another cuproenzyme. Pili torti, one of the hair abnormalities, can help the clinician ...

Her genetic condition – tyrosine hydroxylase deficiency – means her body does not make enough dopamine, a chemical crucial to muscle and brain function. Article continues below ADVERTISEMENT ...