One such area is hyperammonemia, which is also known as a urea cycle disorder. This is a group of metabolic disorders that tend to emerge during the newborn or childhood period, characterized by an increase in blood ammonia levels.
Another disease we focus on is multiple sclerosis, an inflammatory and demyelinating disease related to the central nervous system and immunity. In China, multiple sclerosis is notable as the most common neurological disorder in young people, aside from trauma-induced disorders.
Phenylketonuria (PKU) also falls within our purview. PKU is a hereditary metabolic disease that arises due to a decrease in the activity of phenylalanine hydroxylase in the body or a lack of its coenzyme, tetrahydrobiopterin. This results in an increase in phenylalanine concentration in the blood and tissues, and a significant increase of phenylketonic acid, phenylacetic acid, and phenyllactic acid in the urine.
We also pay close attention to Fabry Disease, a very rare X-linked inherited sphingolipid metabolic disease. The pathogenesis of Fabry Disease is due to the congenital deficiency of α-galactosidase A (α-GalA) in the patient’s body.