title: Molybdenum cofactor deficiency.
abstract: Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive inborn error of metabolism first described in 1978. It is characterized by a neonatal presentation of intractable seizures, feeding difficulties, severe developmental delay, microcephaly with brain atrophy and coarse facial features. MoCD results in deficiency of the molybdenum cofactor dependent enzymes sulfite oxidase, xanthine dehydrogenase, aldehyde oxidase and mitochondrial amidoxime reducing component. The resultant accumulation of sulfite, taurine, S-sulfocysteine and thiosulfate contributes to the severe neurological impairment. Recently, initial evidence has demonstrated early treatment with cyclic PMP can turn MoCD type A from a previously neonatal lethal condition with only palliative options, to near normal neurological outcomes in affected patients. We review MoCD and focus on describing the currently published evidence of this exciting new therapeutic option for MoCD type A caused by pathogenic variants in MOCD1.
authors.affiliation: Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Center for Individualized Medicine FL, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Paldeep S
authors.initials: PS
authors.lastname: Atwal
authors.affiliation: Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: fscaglia@bcm.edu.
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D042931:Aldehyde Oxidase / Q000172:deficiency; D003545:Cysteine / Q000031:analogs & derivatives / Q000378:metabolism; D006801:Humans; D008664:Metal Metabolism, Inborn Errors / Q000378:metabolism / Q000628:therapy; D009943:Organophosphorus Compounds / Q000627:therapeutic use; D010091:Oximes / Q000378:metabolism; D011622:Pterins / Q000627:therapeutic use; D050876:Sulfite Oxidase / Q000172:deficiency; D013447:Sulfites / Q000378:metabolism; D013885:Thiosulfates / Q000378:metabolism; D014968:Xanthine Dehydrogenase / Q000172:deficiency
chemical_list: D009943:Organophosphorus Compounds; D010091:Oximes; D011622:Pterins; D013447:Sulfites; D013885:Thiosulfates; C000608634:amidoxime; C549445:nulibry; C011119:S-sulphocysteine; D014968:Xanthine Dehydrogenase; D042931:Aldehyde Oxidase; D050876:Sulfite Oxidase; D003545:Cysteine
keywords: Cyclic PMP; Molybdenum cofactor deficiency; Neonatal seizures; S-sulfocysteine