Amish, Mennonite, and Hutterite
Genetic Disorder Database

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:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: GCDH
Base Change: C>T, at nucleotide 1262
Amino Acid Change: ala 421 --> val
Last updated: 2018-10-01 

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, 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 

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