Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glycine encephalopathy

Disorder
OMIM #: #605899  (Click to access OMIM database)
Disorder: Glycine encephalopathy 
Also known as: HYPERGLYCINEMIA, NONKETOTIC
NKH  
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: GLDC
Base Change: del., at nucleotide 128
Amino Acid Change:
2   Amish  
Gene: GLDC
Base Change: del.C, at nucleotide 2186
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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