Cobalamin C disease (cbCD)
Evidence-based neurology checklist on 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 Stature Neurological…
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
Stature
Neurological features
Ophthalmic features
Biochemical investigations
Magnetic resonance imaging (MRI) brain: features
References
- 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.
- 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.
- Patton N, Beatty S, Lloyd IC, Wraith JE. Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic Genet 2000; 21:151-154.
- 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.
- 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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