Glutaric aciduria type 1 (Q64120)
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Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterised by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1749323401 |
||
| English | Glutaric aciduria type 1 |
Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterised by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder. |
Statements
CID11:ID_1749323401
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dki-india-ID_1749323401
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