Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene
Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver. Here, we report the case of a 33-year-old female patient who consulted due to repetit...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2019-01-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X18823098 |