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Glutaric "aciduria," type 2
- ... Ethylmalonic-adipicaciduria GA II Glutaric acidemia, type 2 Glutaric aciduria, type 2 MAD MADD Multiple acyl-CoA dehydrogenase deficiency Multiple FAD dehydrogenase deficiency Genetic Testing Registry: Multiple ... Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008 Jan; ...
- ... main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Med Hypotheses. 2005;65(2):330-3. doi: 10.1016/j.mehy.2005. ... Ploski R, Tylki-Szymanska A. Mild phenotype of glutaric aciduria type 1 in ... Metab Brain Dis. 2019 Apr;34(2):641-649. doi: 10.1007/s11011-018-0357- ...
- Newborn Screening Tests for Your Baby (March of Dimes Foundation)Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation
- ... Mol Genet Metab. 2006 May;88(1):90-2. doi: 10.1016/j.ymgme.2005.12.008. Epub 2006 Feb ... patients with glutaric aciduria type I. Mol Genet Metab. 2000 Nov;71(3): ...
- 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.
- ... in the signs and symptoms of glutaric acidemia type II. More About This Health Condition ... patients with mild childhood presentation. Mol Genet Metab. 1999 Jun;67(2):138-47. doi: 10.1006/mgme.1999.2856. ...
- ... molecular aspects. Mol Genet Metab. 2006 Jun;88(2):153-8. doi: ... with glutaric aciduria type II: an inborn error of energy metabolism. ...
- 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 ... mutation, R41Q. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Citation on ...