Hereditary Fructose Intolerance
Autoszomális recesszív
Caused by variants in ALDOB; eating fructose, sucrose or sorbitol can cause low blood sugar, vomiting and liver and kidney damage.
Mit változtat a diagnózis
Knowing allows strict avoidance of fructose, sucrose and sorbitol, including in medicines and intravenous fluids, which prevents harm.
Vizsgált gének
Más néven
Fructosaemia; fructose intolerance; fructose-1,6-bisphosphate aldolase B deficiency; fructosemia; hereditary fructose intolerance syndrome; hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia
