Article
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Human genetics - 1 Jul 2016
Jakubiczka-Smorag Joanna, Santamaria-Araujo Jose Angel, Metz Imke, Kumar Avadh, Hakroush Samy, Brueck Wolfgang, Schwarz Guenter, Burfeind Peter, Reiss Jochen, Smorag Lukasz
Abstract excerpt
Molybdenum cofactor (MoCo) deficiency is a rare, autosomal-recessive disorder, mainly caused by mutations in MOCS1 (MoCo deficiency type A) or MOCS2 (MoCo deficiency type B) genes; the absence of active MoCo results in a deficiency in all MoCo-dependent enzymes. Patients with MoCo deficiency present with neonatal seizures, feeding difficulties, severe developmental delay, brain atrophy and early childhood death....
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