Molybdenum cofactor deficiency - Archive ouverte HAL
Article Dans Une Revue Human Mutation Année : 2010

Molybdenum cofactor deficiency

Jochen Reiss
  • Fonction : Auteur correspondant
  • PersonId : 904218

Connectez-vous pour contacter l'auteur
Rita Hahnewald
  • Fonction : Auteur
  • PersonId : 904219

Résumé

All molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum cofactor". In humans, four molybdoenzymes are known: aldehyde oxidase, mitochondrial amidoxime reducing component (mARC), xanthine oxidoreductase and sulfite oxidase. Mutations in the genes encoding the biosynthetic MoCo pathway enzymes abrogate the activities of all molybdoenzymes and result in the "combined" form of MoCo deficiency (OMIM # 252150), which is clinically very similar to isolated sulfite oxidase deficiency (OMIM # 606887), caused by mutations in the gene for the corresponding apoenzyme. Both deficiencies are inherited as an autosomal-recessive disease and result in progressive neurological damage and early childhood death in most cases. The majority of mutations leading to MoCo deficiency have been identified in the genes MOCS1 (type A deficiency) and MOCS2 (type B deficiency). For type A deficiency an effective substitution therapy has been described recently.

Mots clés

Fichier principal
Vignette du fichier
PEER_stage2_10.1002%2Fhumu.21390.pdf (2.32 Mo) Télécharger le fichier
Origine Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

hal-00602303 , version 1 (22-06-2011)

Identifiants

Citer

Jochen Reiss, Rita Hahnewald. Molybdenum cofactor deficiency. Human Mutation, 2010, 32 (1), pp.10. ⟨10.1002/humu.21390⟩. ⟨hal-00602303⟩

Collections

PEER
129 Consultations
567 Téléchargements

Altmetric

Partager

More