Amish, Mennonite, and Hutterite
Genetic Disorder Database

Methylmalonic aciduria and homocystinuria, cblC type

Disorder
OMIM #: #277400  (Click to access OMIM database)
Disorder: Methylmalonic aciduria and homocystinuria, cblC type 
Also known as: METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblC TYPE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: MMACHC
Base Change: ins.A, at nucleotide 271
Amino Acid Change: Frame shift
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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