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