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, dystonia, choreoathetosis, rigidity, other central nervous system abnormalities, metabolic acidosis, glutaricaciduria, hypoglycemia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GCDH |
| Base Change: | C>T, at nucleotide 1262 |
| Amino Acid Change: | ala 421 --> val |
| Last updated: | 2022-11-04 |
| 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 |
| Imerci A, Strauss KA, Oleas-Santillan GF, Miller F. (2020) Orthopaedic manifestations of glutaric acidemia Type 1. J Child Orthop Oct 1;14(5):473-479. PubMed ID: 33204356 |
| 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, Lazovic J, Wintermark M, Morton DH. (2007) Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain Jul;130(Pt 7):1905-20. PubMed ID: 17478444 |
| Strauss KA, Puffenberger EG, Robinson DL, Morton DH. (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet Aug 15;121C(1):38-52. PubMed ID: 12888985 |
| Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. (2020) Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab doi: 10.1016/j.ymgme.2020.09.007. PubMed ID: 33069577 |
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