Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
glutaryl-coenzyme A dehydrogenase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
additional information | Glutaryl-CoA dehydrogenase deficiency causes glutaric aciduria type 1, GA1, an autosomal recessive disorder of mitochondrial lysine and tryptophan degradation. In glutaric aciduria type 1, glutaryl-CoA and its derivatives are produced from intracerebral lysine and entrapped at high concentrations within the brain, where they interfere with energy metabolism. Biochemical toxicity triggers stroke-like striatal degeneration in susceptible children under 2 years of age. Although metabolic toxicity appears central to the pathophysiology of striatal necrosis, cerebrovascular changes probably also contribute to the process. Cerebral haemodynamics and the glutaric aciduria type 1 toxidrome, phenotype with atrophic striatal lesions, increased cerebrospinal fluid volume, interstitial brain oedema, acute striatal degeneration, low regional cerebral blood volume and signs of ischaemia, detailed overview in Amish population patients | Homo sapiens |