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Glutaric "aciduria," type 1
- ... I Glutaryl-CoA dehydrogenase deficiency Genetic Testing Registry: Glutaric aciduria, type 1 Glutaryl-CoA dehydrogenase deficiency National Organization for Rare ...
- Newborn Screening Tests for Your Baby (March of Dimes Foundation)Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation ... All babies in the U.S. receive newborn screening tests before leaving the hospital ...
- ... II in human. Genomics. 1996 Apr 1;33(1):131-4. doi: 10.1006/geno.1996.0170. Citation on PubMed Whitfield J, Hurst D, Bennett MJ, Sherwood WG, Hogg R, Gonsoulin W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. Am ...
- ... North Carolina. Mol Genet Metab. 2006 May;88(1):90-2. doi: ... patients with glutaric aciduria type I. Mol Genet Metab. 2000 Nov;71(3): ...
- Amino Acid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
- Mitochondrial Diseases (National Library of Medicine)... The diseases range from mild to severe. Some types can be fatal. Genetic ... therapy, vitamins and supplements, special diets, and medicines.
- ... adipicaciduria GA II Glutaric acidemia, type 2 Glutaric aciduria, type 2 MAD MADD Multiple acyl-CoA dehydrogenase deficiency Multiple FAD ... and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008 Jan;93(1):36-9. doi: 10.1016/j.ymgme.2007. ...
- ... in the signs and symptoms of glutaric acidemia type II. More About This Health Condition ... acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23. doi: 10.1002/humu.10226. Citation ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- ... by an infection, fasting, strenuous exercise, or other types of stress.HMG-CoA lyase deficiency is sometimes mistaken for Reye ... A lyase. J Biol Chem. 2003 Aug 1;278(31):29016-23. doi: 10.1074/jbc. ...