molybdenum cofactor deficiency

Pathology

• loss of all molybdoenzyme activities

Genetics

• autosomal recessive
• type A associated with defects in MOCS1
  • absence of fosdenopterin
• type B associated with defects in MOCS2
• type C associated with defects in GPHN

Clinical manifestations

• types B & C
  • severe neurological damage
  • neonatal seizures
  • early childhood death

Management

• type A: fosdenopterin (Nulibry) FDA-approved

More general terms

• inborn error of metabolism

Additional terms

• aldehyde oxidase (AOX1, AO)
• sulfite oxidase, mitochondrial (SUOX)
• xanthine dehydrogenase (XDH, XDHA)

Database

• OMIM: https://mirror.omim.org/entry/252150