Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, homocystinemia, weakness, cerebral atrophy, growth deficiency, spastic paralysis, dystonia, microcephaly, seizures, 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   Amish  
Gene: MTHFR
Base Change: C>T, at nucleotide 1129
Amino Acid Change: arg 377 --> cys
Last updated: 2018-04-20 

References
Goyette P, Christensen B, Rosenblatt DS, and 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. 59(6): 1268-1275.
PubMed ID: 8940272 
Strauss KA, Puffenberger PG, Morton DH. (2012) One Community’s Effort to Control Genetic Disease. American Journal of Public Health 102(7):1300-1306.
PubMed ID: 22594747 

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