Inborn Errors of Fructose Metabolism. What Can We Learn from Them?
Abstract
:1. Introduction
2. An Overview of Fructose Metabolism
2.1. Enzyme of Fructose Metabolism
2.2. Fructose Toxicity
3. Inborn Errors of Fructose Metabolism: A Model for Fructose Toxicity
3.1. Essential Fructosuria-Hepatic Fructokinase Deficiency (OMIM 229800)
3.2. Hereditary Fructose Intolerance and Accumulation of F-1-P (OMIM 229600)
3.3. Fructose-1,6-Bisphosphatase Deficiency (OMIM 229700)
4. Conclusions
Author Contributions
Conflicts of Interest
References
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Name of the Disease | Enzyme Defect | OMIM Number | Main Clinical Symptoms | Gene Mutations/Inheritance | Treatment |
---|---|---|---|---|---|
Essential fructosuria | Fructokinase | 229800 | Asymptomatic | KHK/AR |
|
Hereditary fructose intolerance | Aldolase B | 229600 | Abdominal pain, nausea, hypoglycemia symptoms, shock-like syndrome after fructose ingestion | ALDOB/AR |
|
FBPase deficiency | FBPase | 229700 | Life-threatening episodes of hypoglycemia, coma triggered by a febrile episode, fasting or large amount of fructose ingestion (~1 g/kg BW) | FBP1/AR |
|
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Tran, C. Inborn Errors of Fructose Metabolism. What Can We Learn from Them?Nutrients2017,9,356. https://doi.org/10.3390/nu9040356
Tran C. Inborn Errors of Fructose Metabolism. What Can We Learn from Them?Nutrients.2017; 9(4):356. https://doi.org/10.3390/nu9040356
Chicago/Turabian StyleTran, Christel. 2017. "Inborn Errors of Fructose Metabolism. What Can We Learn from Them?"Nutrients9, no. 4: 356. https://doi.org/10.3390/nu9040356