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Ontology Browser

Term:
Fructose Metabolism, Inborn Errors (DOID:9000875)
Annotations: Rat: (6) Mouse: (6) Human: (6) Chinchilla: (6) Bonobo: (6) Dog: (6) Squirrel: (6) Pig: (6)
Parent Terms Term With Siblings Child Terms
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
congenital disorder of glycosylation +   
Congenital Lactase Deficiency  
D-Glycericacidemia  
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
galactosemia +   
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycogen metabolism disorder +   
glycogen storage disease +   
glycoproteinosis +   
hyperinsulinemic hypoglycemia +   
Hyperproglucagonemia 
intestinal disaccharidase deficiency 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Mannosidase Deficiency Diseases +   
mucopolysaccharidosis +   
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
NGLY1-deficiency  
Ogden syndrome  
pentosuria  
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
primary hyperoxaluria +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Ribose 5-Phosphate Isomerase Deficiency  
Storage of Unusual Polysaccharide 
Sucrase-Isomaltase Deficiency, Congenital  
Transaldolase Deficiency  
Trehalase Deficiency  
triosephosphate isomerase deficiency  
Xylosidase Deficiency 

Synonyms
Primary IDs: MESH:D015318 ;   RDO:0004002
Definition Sources: MESH:D015318

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.