Hereditary Fructose Intolerance
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Disease Name
Hereditary Fructose Intolerance
Disease Information
Intolerance ALDOB becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include 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.
Testing Benefits & Indication
Specific mutation analysis of p.A150P, p.A175D and p.N335K on the ALDOB gene.
Genes
Tests