Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glutaric Aciduria III

Disorder
OMIM #: #231690  (Click to access OMIM database)
Disorder: Glutaric Aciduria III 
Also known as: GA III, GLUTARYL-CoA OXIDASE DEFICIENCY 
Clinical
Phenotype: High Glutaric Acid excretion in urine, low 3-hydroxyglutarate, children are otherwise healthy, do not suffer from the symptoms of children with Glutaric aciduria type 1 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: C7orf10 (SUGCT)
Base Change: C>T, at nucleotide 895
Amino Acid Change: arg 299 --> trp
Last updated: 2017-05-01 

References
Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. (2008) Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet 83(5):604-9.
PubMed ID: 18926513 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 1963056 

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