Amish, Mennonite, and Hutterite
Genetic Disorder Database

Ornithine transcarbamylase deficiency

Disorder
OMIM #: #311250  (Click to access OMIM database)
Disorder: Ornithine transcarbamylase deficiency 
Also known as: ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY OTC DEFICIENCY 
Clinical
Phenotype: hyperammonemia, encephalopathy, respiratory alkalosis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: OTC
Base Change: G>A, at nucleotide 422
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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