Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mevalonate kinase deficiency

Disorder
OMIM #: #610377  (Click to access OMIM database)
Disorder: Mevalonate kinase deficiency 
Also known as: Mevalonic aciduria 
Clinical
Phenotype: increased mevalonic acid in urine, failure to thrive, hypotonicity, ataxia, anemia, hepatomegaly, splenomegaly, steatorrhoea, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite, Unknown / Other Mennonite  
Gene: MVK
Base Change: T>C, at nucleotide 803
Amino Acid Change: ile 268 --> thr
ReferencesStrauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565
2   Old Order Mennonite  
Gene: MVK
Base Change: G>A, at nucleotide 1174
Amino Acid Change: ala 392 --> thr
Last updated: 2018-10-12 

References
Hinson D, Ross R, Krisans S, Shaw J, Kozich V, Rolland M-O, Divry P, Mancini J, Hoffmann G, and Gibson K. (1999) Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry. Am. J. Hum. Genet. 65: 327-335.
PubMed ID: 10417275 
Puffenberger EG. (2003) Genetic Heritage of the Old Order Mennonites of Southeastern Pennsylvania. American Journal of Medical Genetics Part C 121C: 18-31.
PubMed ID: 12888983 
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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