Homocystinuria
| Disorder | |
|---|---|
| OMIM #: | #236250 (Click to access OMIM database) |
| Disorder: | Homocystinuria |
| Also known as: | DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY, METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, MTHFR DEFICIENCY, MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED |
| Clinical | |
| Phenotype: | homocystinuria, homocysteinemia, muscle weakness, cerebral atrophy, growth deficiency, spastic paralysis, dystonia, microcephaly, seizures, developmental delay, methylenetetrahydrofolate reductase deficiency |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | MTHFR |
| Base Change: | C>T, at nucleotide 1129 |
| Amino Acid Change: | arg 377 --> cys |
| Last updated: | 2022-11-05 |
| References |
|---|
| Goyette P, Christensen B, Rosenblatt DS, Rozen R. (1996) Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. Am J Hum Genet Dec;59(6):1268-75. PubMed ID: 8940272 |
| Strauss KA, Puffenberger PG, Morton DH. (2012) One Community’s Effort to Control
Genetic Disease. Am J Public Health Jul;102(7):1300-6. PubMed ID: 22594747 |
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