Amish, Mennonite, and Hutterite
Genetic Disorder Database

Salla Disease

Disorder
OMIM #: #604369  (Click to access OMIM database)
Disorder: Salla Disease 
Also known as: SALLA DISEASE
SD, SIALURIA, FINNISH TYPE 
Clinical
Phenotype: ataxia, hypotonicity, developmental delay/mental retardation, growth deficiency, high levels of sialic acid in the urine  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: SLC17A5
Base Change: C>T, at nucleotide 115
Amino Acid Change: arg 39 --> cys
Last updated: 2010-07-22 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 
Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. (2005) Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. Am J Med Genet A 138A(3):262-7.
PubMed ID: 16158439 

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