Glutaric acidemia I
| Disorder | |
|---|---|
| OMIM #: | #231670 (Click to access OMIM database) |
| Disorder: | Glutaric acidemia I |
| Also known as: | Glutaric aciduria I Glutaryl-CoA dehydrogenase deficiency |
| Clinical | |
| Phenotype: | Presentation is extremely variable, acute infantile encephalopathy, sudden death, static extrapyramidal cerebral palsy, spastic paralysis, some phenotypes are extremely mild and adults appear normal, dystonia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| References Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 1 Amish |
|
| Gene: | GCDH |
| Base Change: | C>T, at nucleotide 1262 |
| Amino Acid Change: | ala 421 --> val |
| Last updated: | 2010-07-20 |
| References |
|---|
| Biery B, Stein D, Morton DH, and Goodman S. (1996) Gene Structure and Mutations of Glutaryl-Coenzyme A Dehydrogenase: Impaired Association of Enzyme Subunits That Is Due to an A421V Substitution Causes Glutaric Acidemia Type 1 in the Amish. Am. J. Hum. Genet. 59: 1006-1011. PubMed ID: 8900227 |
| Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. (1991) Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am. J. Med. Genet. 41:89-95. PubMed ID: 1951469 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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