Molybdenum cofactor deficiency (MoCD): clinical features

Evidence-based neurology checklist on molybdenum cofactor deficiency (mocd): clinical features: Genetic mutations MOCS1 gene (type A deficiency) MOCS2 gene (type B deficiency) MOCS3 gene Gephyrin (GPHN) Impaired molybdoenzyme activities Presentation types Neurological features Dysmorphic features…

Genetic mutations

  • MOCS1 gene (type A deficiency)
  • MOCS2 gene (type B deficiency)
  • MOCS3 gene
  • Gephyrin (GPHN)

Impaired molybdoenzyme activities

Presentation types

Neurological features

Dysmorphic features

Systemic features

Neurological differential diagnosis

Differential diagnosis of lens dislocation

References

  1. Nagappa M, Bindu PS, Taly AB, Sinha S, Bharath RD. Child Neurology: Molybdenum cofactor deficiency. Neurology 2015; 85:e175-e178.
  2. Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab 2016; 117:1-4. 
  3. Reiss J, Hahnewald R. Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat 2011; 32:10-18. 
  4. Vijayakumar K, Gunny R, Grunewald S, et al. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatr Neurol 2011; 45:246-252. 
  5. Mechler K, Mountford WK, Hoffmann GF, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med 2015; 17:965-970.
  6. And 5 more. Subscribe to see the full list

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