molybdenum cofactor deficiency

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.

It results in high blood levels of sulfite and urate, in much the same way as molybdenum cofactor deficiency.

Molybdenum cofactor deficiency, a genetic illness.

Defects in both copies of MOCS2 cause the molybdenum cofactor deficiency disease in babies.

Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase.

A congenital molybdenum cofactor deficiency disease, seen in infants, results in interference with the ability of the body to use molybdenum in enzymes.

High sulphite content in the blood and urine of babies can be caused by molybdenum cofactor deficiency disease which leads to neurological damage and early death unless treated.

Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage.

Teksam O, Yurdakok M, Coskun T. Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage.

Diagnosis of Molybdenum cofactor deficiency includes early seizures, low blood levels of uric acid, and high levels of sulphite, xanthine, and uric acid in urine.

Cyclic pyranopterin monophosphate (cPMP) is an experimental treatment for molybdenum cofactor deficiency type A, which was developed by the pioneering work of Jose Santamaría-Araujo, PhD and Prof.Dr. Schwarz at the German universities TU Braunschweig and the University of Cologne.

In 2009, Monash Children's Hospital at Southern Health in Melbourne, Australia reported that a patient known as Baby Z became the first person to be successfully treated for molybdenum cofactor deficiency type A. The patient was treated with cPMP, a precursor of the molybdenum cofactor.