Cobalamin C disease (cbCD)

Genetics

• This is the commonest inborn error of vitamin B12 metabolism
• The transmission is autosomal recessive
• The onset is usually in the first year of life
• It may rarely present in adolescence or adulthood

References

1. Thauvin-Robinet C, Roze E, Couvreur G, et al. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. JNNP 2008; 79:725-728.
2. Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 2006; 88:315-321. 
3. Patton N, Beatty S, Lloyd IC, Wraith JE. Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic Genet 2000; 21:151-154.
4. Ku CA, Ng JK, Karr DJ, et al. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. Ophthalmic Genet 2016; 37:404-414.
5. Heil SG, Hogeveen M, Kluijtmans LA, et al. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). J Inherit Metab Dis 2007; 30:811.
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Related checklists

• Vitamin B12 deficiency: causes and risk factors
• Vitamin B12 deficiency: clinical features
• Subacute combined degeneration (SCD)
• Vitamin B12 deficiency: management