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, hypoglycemia, fructosemia, jaundice, cirrhosis, lethargy, seizures, metabolic acidosis, lactic acidosis, Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth delay. 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: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | ALDOB |
| Base Change: | G>C, at nucleotide 448 |
| Amino Acid Change: | ala 150 --> pro |
| Last updated: | 2022-11-05 |
| References |
|---|
| Seen at CSC. |
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