Methylmalonic acidemia

Aka: Methylmalonic acidemia, Methylmalonicaciduria, Cobalamin Disorders

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II. Epidemiology

  1. Incidence: 1:20,000
  2. Autosomal Recessive inheritance

III. Pathophysiology

  1. Organic Aciduria

IV. Causes

  1. Most common genetic causes
    1. Methyl-malonyl-CoA mutase defect
    2. Cobalamin synthesis defect
  2. Acquired causes
    1. Pernicious Anemia

V. Signs

  1. Metabolic Ketoacidosis
  2. Encephalopathy
  3. hyperammonemia

VI. Labs

  1. Urine organic acids
  2. Enzyme assay of skin fibroblasts

VII. Management

  1. Acute
    1. Sodium Bicarbonate
    2. Carnitine
  2. Chronic maintenance
    1. Protein restriction
    2. Methylmalonate precursor restriction
    3. Vitamin B12 Supplementation

VIII. References

  1. Raghuveer (2006) Am Fam Physician 73:1981-90 [PubMed]

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