Methylmalonic encephalopathy

Evidence-based neurology checklist on methylmalonic encephalopathy: Pathology and genetic This is caused by cobalamin B (cbIB) type methylmalonic aciduria or acidemia (MMA) This is caused by mutations in the MMAB gene The mutation leads to methylmalonyl-coenzyme A mutase (MCM) deficiency It…

Pathology and genetic

  • This is caused by cobalamin B (cbIB) type methylmalonic aciduria or acidemia (MMA)
  • This is caused by mutations in the MMAB gene
  • The mutation leads to methylmalonyl-coenzyme A mutase (MCM) deficiency
  • It results in abnormal metabolism of adenosylcobalamin

Post-prandial features: after excessive meat consumption

Systemic features

Neurological features

Differential diagnosis

Magnetic resonance imaging (MRI) brain

Biochemical abnormalities: increased

Biochemical abnormalities: normal or low

Other investigations

Treatment

References

  1. Chu X, Yan H, Yu M. Reversible cortical and basal ganglia lesions in late-onset methylmalonic aciduria. JAMA Neurol 2024; 81:81-82.
  2. Chen T, Gao Y, Zhang S, Wang Y, Sui C, Yang L. Methylmalonic acidemia: neurodevelopment and neuroimaging. Front Neurosci 2023; 17:1110942.
  3. Gutiérrez-Aguilar G, Abenia-Usón P, García-Cazorla A, Vilaseca MA, Campistol J. Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12. Rev Neurol 2005; 40:605-608.
  4. Cocuzzo B, Kalirao S. Uncommonly missed diagnosis of methylmalonic acidemia (MMA) in Adults and usefulness of testing for MMA in cases of seizures/neuropathy/weakness/ataxia. Cureus 2023; 15:e47577. 
  5. Strømme P, Stokke O, Jellum E, Skjeldal OH, Baumgartner R. Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings - a new recessive syndrome? Clin Genet 1995; 48:1-5.
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