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Methylmalonic acidemiaAka: 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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This page was written by Scott Moses, MD. This page was last revised before 5/10/08, prior to consistent tracking of revision date. This page was last published on 5/10/2008. Please send comments and questions to the editor. Contact information may be found on the page About the Family Practice Notebook. These pages are best viewed with Microsoft Internet Explorer 6.0.