Molybdenum Cofactor Deficiency Type A

Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. Until recently the disorder always was fatal early in life. Substitution of cPMP represents the first and only causative therapy available for patients with MoCD with restoration of molybdenum cofactor-dependent enzyme activities, stabilisation neurodegeneration and clinical improvement of epilepsy and development.

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