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Disorders Affecting White and Gray Matter:
Published in Swati Goyal, Neuroradiology, 2020
Type 1 is an autosomal recessive. Adversely affects mitochondrial activityDeficiency of glutaryl CoA dehydrogenase that converts lysine to tryptophanPresentation – progressive dystonia, dyskinesia
Glutaric aciduria (type I)
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The site of the molecular defect is in glutaryl CoA dehydrogenase (see Figure 9.1). Activity is most commonly measured in fibroblast or leukocyte lysates in which residual activity is virtually undetectable [21, 41]. The disease is transmitted as an autosomal recessive trait. Intermediate activities of the enzyme have been documented in leukocytes and fibroblasts of heterozygotes [21], and consanguinity has been observed [19–21].
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
GA1 is an autosomal recessive organic academia caused by the deficiency of the enzyme glutaryl-CoA dehydrogenase. The enzyme is involved in the catabolism of the amino acid lysine and it is thought that the protein catabolism that can occur during an undercurrent illness releases large amounts of lysine, which leads to the accumulation of the neurotoxic compound glutaric acid and related metabolites. This can result in an acute severe permanent neurological insult. Less frequently a high protein intake may result in a similar but typically more gradual onset neurological disease.
Personalized Nutrition: Translating the Science of NutriGenomics Into Practice: Proceedings From the 2018 American College of Nutrition Meeting
Published in Journal of the American College of Nutrition, 2019
Okezie I Aruoma, Sharon Hausman-Cohen, Jessica Pizano, Michael A. Schmidt, Deanna M. Minich, Yael Joffe, Sebastian Brandhorst, Simon J. Evans, David M. Brady
Since MTHFR requires FAD as a co-factor, the organic acid glutaric acid which increases with riboflavin insufficiency may be used to validate. Chronically high levels of glutaric acid are suggested to associated with at least three inborn errors of metabolism, including glutaric aciduria type I, malonyl-CoA decarboxylase deficiency, and glutaric aciduria type III. Glutaric aciduria type I (glutaric acidemia type I, glutaryl-CoA dehydrogenase deficiency, GA1, or GAT1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine, and tryptophan due to a deficiency of mitochondrial glutaryl-CoA dehydrogenase. Excessive levels of their intermediate breakdown products (including glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, and glutaconic acid) may accumulate and can cause damage to the brain (and also other organs; https://pubchem.ncbi.nlm.nih.gov/compound/glutaric_acid).