• Organic acidemias (OA) are defects in the degradation of leucine, isoleucine, and valine.

  • OA can present either as a severe neonatal-onset form (poor feeding, vomiting, lethargy, tachypnea, progressing to acidosis, respiratory distress, coma, death) or late-onset form (usually recurrent ketoacidosis or lethargy with catabolic stress).

  • Nutrition treatment involves use of propiogenic amino acid-free medical foods and restriction of natural protein in PROP and MMA and protein restriction with or without leucine-free medical foods in IVA.

  • Outcomes in PROP and MMA have been guarded with frequent neurological complications, renal dysfunction, cardiomyopathy, and optic atrophy but are improving with earlier identification and treatment, as well as with liver or liver-kidney transplantation; outcomes in IVA are often normal.


Newborn Screening Methylmalonic Acid Isovaleric Acid Metabolic Decompensation Propionic Acidemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Clinical Genetics and MetabolismChildren’s Hospital Colorado, University of Colorado Denver – Anschutz Medical CampusAuroraUSA

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