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, facial dysmorphism, hypotonia, ataxia, anemia, hepatomegaly, splenomegaly, steatorrhoea, developmental delay, motor delay, normocytic hypoplastic anemia, leukocytosis, edema |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| 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: | 2022-11-15 |
| References |
|---|
| Chiu M, Garabon J, Chen L, Karp N, Kapoor A, Woolfson JP. (2021) Mevalonic Aciduria Associated with Intrahepatic Bile Duct Paucity. Hepatology doi: 10.1002/hep.31778. PubMed ID: 33638873 |
| 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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