Endocrinology Book

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Methylmalonic acidemia

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

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