About
Organic Acid Disorders are genetic disorders in which there is a problem in breaking down protein because an essential enzyme is missing or not working properly. This can result in a toxic build-up of organic acids and a shortage of chemicals essential to normal body functioning.
Early detection and treatment result in the best outcomes for infants with Organic Acid Disorders.
Utah currently screens for the following Organic Acid Disorders:
- 2-Methylbutyryl COA Dehydrogenase Deficiency (2MBG Deficiency)
- 2M3HBA Deficiency
- 3-Hydroxy-3-Methylglutaryl-COA Lyase Deficiency (HMG Deficiency)
- 3MCC Deficiency
- 3MGA
- BKT
- GA-1
- IBG
- Isovaleric Acidemia
- Malonic Acidemia
- MCD
- MMA
- Propionic Acidemia
Children diagnosed with an Organic Acid Disorder are cared for by the Metabolic Clinic at Primary Children’s Hospital.
