Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset
myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to …

Pharmacogenomics (PGx) enables personalized treatment for the prediction of drug
response and to avoid adverse drug reactions. Currently, PGx mainly relies on the genetic …

Methylation is a common biochemical reaction, and a number of methyltransferase (MTase)
enzymes mediate the various methylation events occurring in living cells. Almost all MTases …

Thiopurine S-methyltransferase (TPMT) is an important enzyme involved in the deactivation
of thiopurines and represents a major determinant of thiopurine-related toxicities. Despite its …

Precision cancer medicine is widely established, and numerous molecularly targeted drugs
for various tumor entities are approved or in development. Personalized pharmacotherapy in …

Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired
sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or …

Azathioprine (AZA) is commonly used for many autoimmune disorders; however, the
limitation of its clinical use is due to potential toxicities, including severe leukopenia. Recent …

Thiopurine 6-mercaptopurine (6-MP) is metabolized by thiopurine methyl transferase
(TPMT). TPMT genetic variation results in some individuals having reduced or absent TPMT …

Molybdenum cofactor catabolism unravels the physiological role of the drug metabolizing
enzyme thiopurine S-methyltransferase. Many drugs are inactivated by enzymes. Thus …