Molybdenum Cofactor Deficiency: Symptoms, Diagnosis and Type

Molybdenum Cofactor Deficiency Diagnosis

Molybdenum cofactor deficiency is a rare condition occurring in humans. Due to deficiency of molybdenum cofactor, the sulfite gets accumulated in the body to a level which is toxic to the health.

  • Usually the condition is a genetic problem and it is an inherited deficiency.
  • The condition is fatal, where the infant cannot survive for more than few months after the birth.
  • Seizures during early infancy, low level of uric acid in the blood examination, high levels of uric acid, xanthine and sulfite in the urine help to diagnose the condition.
  • Prenatal diagnosis of this lethal disease is possible, by assaying of sulfite oxidase activity in chorionic villus samples of a pregnant woman, who had previous history of such a child.

Molybdenum Cofactor Deficiency Symptoms

Symptoms of molybdenum cofactor deficiency are:

  • Small head of the baby, there is increased neurological reflexes, intracranial hemorrhage, acidosis and seizures.
  • In this metabolic disorder there is increased level of Xanthine in the urine resulting in Xanthuria. There is deficiency of enzyme aldehyde oxidase, xanthine dehydrogenase and sulfite oxydase which are necessary for metabolism of xanthine. Xanthuria is associated with neurological symptoms.

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