Hereditary Fructose Intolerance

Co se diagnózou změní

Knowing allows strict avoidance of fructose, sucrose and sorbitol, including in medicines and intravenous fluids, which prevents harm.

Analyzované geny

Známé také jako

Fructosaemia; fructose intolerance; fructose-1,6-bisphosphate aldolase B deficiency; fructosemia; hereditary fructose intolerance syndrome; hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia

Co se diagnózou změní

Knowing allows avoidance of fasting and fructose and early glucose treatment during illness.

Analyzované geny

Známé také jako

baker-Winegrad disease; FBP1D; fructose 1,6 diphosphatase deficiency

Co se diagnózou změní

Knowing allows avoidance of prolonged fasting and prompt treatment of low blood sugar.

Analyzované geny

Známé také jako

PCKDC; PEP carboxykinase deficiency; PEPCK 1 deficiency; phosphoenolpyruvate carboxykinase deficiency; phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency; phosphoenolpyruvate carboxylase deficiency; phosphopyruvate carboxylase deficiency