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Methylmalonicaciduria

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

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