Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hereditary fructose intolerance

Disorder
OMIM #: #229600  (Click to access OMIM database)
Disorder: Hereditary fructose intolerance 
Also known as: FRUCTOSEMIA FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY ALDOLASE B DEFICIENCY ALDOB DEFICIENCY 
Clinical
Phenotype: Recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: ALDOB
Base Change: G>C, at nucleotide 448
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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