Molybdenum cofactor deficiency (MoCD): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Molybdenum cofactor deficiency (MoCD): clinical features. MOCS1 gene (type A deficiency). Fully referenced neurology checklist.
Genetic mutations
- MOCS1 gene (type A deficiency)
- MOCS2 gene (type B deficiency)
- MOCS3 gene
- Gephyrin (GPHN)
Impaired molybdoenzyme activities
Locked: subscribe to see this section.
Presentation types
Locked: subscribe to see this section.
Neurological features
Locked: subscribe to see this section.
Dysmorphic features
Locked: subscribe to see this section.
Systemic features
Locked: subscribe to see this section.
Neurological differential diagnosis
Locked: subscribe to see this section.
Differential diagnosis of lens dislocation
Locked: subscribe to see this section.
References
- Nagappa M, Bindu PS, Taly AB, Sinha S, Bharath RD. Child Neurology: Molybdenum cofactor deficiency. Neurology 2015; 85:e175-e178.
- Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab 2016; 117:1-4.
- Reiss J, Hahnewald R. Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat 2011; 32:10-18.
- Vijayakumar K, Gunny R, Grunewald S, et al. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatr Neurol 2011; 45:246-252.
- 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.
- And 5 more. Subscribe to see the full list
