Furthermore, a mutational block in molybdenum cofactor biosynthesis causes absence of enzyme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.
[3] Infants with molybdenum cofactor deficiency may also experience increased or decreased muscle tone, difficulty feeding, abnormally high fussiness, exaggerated startle, microcephaly, coarse facial features, and eye lens dislocation.
https://www.centerwatch.com/clinical-trials/listings/84057/molybdenum-cofactor-deficiency-type-a-study-alxn1101-neonates-molybdenum/ On 26 February 2021, the U.S. Food and Drug Administration approved fosdenopterin (Nulibry) for intravenous injection to reduce the risk of death due to Molybdenum Cofactor Deficiency Type A.
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.
[6][7] Baby Z will require daily injections of cyclic pyranopterin monophosphate (cPMP) for the rest of her life.