Metabolism

Methylmalonic acidemia

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Methylmalonic acidemia, Methylmalonicaciduria, Cobalamin Disorders

  • See Also
  1. Inborn Errors of Metabolism
  • Epidemiology
  1. Incidence: 1:20,000
  2. Autosomal Recessive inheritance
  • Pathophysiology
  1. Organic Aciduria
  • Causes
  1. Most common genetic causes
    1. Methyl-malonyl-CoA mutase defect
    2. Cobalamin synthesis defect
  2. Acquired causes
    1. Pernicious Anemia
  • Signs
  1. Metabolic Ketoacidosis
  2. Encephalopathy
  3. hyperammonemia
  • Labs
  1. Urine organic acids
  2. Enzyme assay of skin fibroblasts
  • Management
  1. Acute
    1. Sodium Bicarbonate
    2. Carnitine
  2. Chronic maintenance
    1. Protein restriction
    2. Methylmalonate precursor restriction
    3. Vitamin B12 Supplementation
  • References
  1. Raghuveer (2006) Am Fam Physician 73:1981-90 [PubMed]