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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
Related
aldehyde oxidase (AOX1, AO)
sulfite oxidase, mitochondrial (SUOX)
xanthine dehydrogenase (XDH, XDHA)
General
inborn error of metabolism
Database Correlations
OMIM 252150
References
OMIM :accession 252150