Literature summary for 1.3.8.6 extracted from

Strauss, K.A.; Donnelly, P.; Wintermark, M.
Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency (2010), Brain, 133, 76-92.

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
glutaryl-coenzyme A dehydrogenase	-	Homo sapiens

General Information

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

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Release 2023.1 (January 2023)