- A Case of Glutaric Aciduria Type I with Macrocephaly
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Shin WJ, Moon YO, Yoon HR, Dong ES, Ahn YM
- KMID: 2104626
- J Korean Pediatr Soc.
- 2003 Mar;46(3):295-301.
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly... -
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- Bilateral Pallidotomy for Dystonia with Glutaric Aciduria Type 1
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Hwang HS, Salles AD
- KMID: 1882181
- J Korean Neurosurg Soc.
- 2005 Nov;38(5):380-383.
Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with encephalopathy episode... -
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