Keywords: Hypoxic-ischemic encephalopathy, Molybdenum cofactor
deficiency, Pyruvate carboxylase deficiency, Zellweger syndrome, Non-ketotichyperglycinaemia.
The enzyme is used to treat patients with the ultra-rare disease caused by molybdenum cofactor
deficiency Type A.
It was reported yesterday that the contract has been signed to acquire cyclic pyranopterin monophosphate (cPMP; ALXN1101), a synthetic enzyme co-factor therapy for patients with the ultra-rare disease caused by molybdenum cofactor
deficiency (MoCD) Type A.
Prokaryotic nitrate reductases include a class of assimilatory enzymes and two classes of respiratory enzymes; all contain a guanylate molybdenum cofactor
but differ in their substructures, cellular location, and requirement for cofactor.
A congenital molybdenum cofactor
deficiency disease, seen in infants, results in interference with the ability of the body to use molybdenum in enzymes.
cPMP replacement therapy molybdenum cofactor
The reason of paroxysm of tachycardia in the patient 4 was the neurodegenerative disease and the deficit of molybdenum cofactor
. The termination of pregnancy is the method of choice in full term newborns with paroxysms of tachycardia since the maturity of the lung parenchyma allows the initiation of the operation depending on the fetal condition.
The uric acid concentration is a useful diagnostic marker for deficiencies of phosphoribosyl pyrophosphate synthetase (PRPPS)  hypoxanthine guanine phosphoribosyl transferase (HGPRT), purine nucleoside phosphorylase (PNP), xanthine dehydrogenase (XDH), and molybdenum cofactor
In the patients with inborn errors of purine metabolism, [sup.1]H-NMR spectroscopy of urine samples led to the diagnosis in all patients with PNP deficiency, xanthinuria, molybdenum cofactor
deficiency, Lesch-Nyhan disease, ADA deficiency, and adenylosuccinate lyase deficiency.