Fructose Intolerance

An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

Also Known As:

Intolerance, Fructose; ALDOB Deficiency; Aldolase B Deficiency; Fructose Aldolase B Deficiency; Fructose Intolerance, Hereditary; Fructose-1,6-Biphosphate Aldolase Deficiency; Fructose-1,6-Bisphosphate Aldolase B Deficiency; Fructose-1-Phosphate Aldolase Deficiency; Fructosemia; Hereditary Fructose Intolerance; ALDOB Deficiencies; Aldolase B Deficiencies; Aldolase Deficiencies, Fructose-1,6-Biphosphate; Aldolase Deficiencies, Fructose-1-Phosphate; Aldolase Deficiency, Fructose-1,6-Biphosphate; Aldolase Deficiency, Fructose-1-Phosphate; Deficiencies, ALDOB; Deficiencies, Aldolase B; Deficiencies, Fructose-1,6-Biphosphate Aldolase; Deficiencies, Fructose-1-Phosphate Aldolase; Deficiency, ALDOB; Deficiency, Aldolase B; Deficiency, Fructose-1,6-Biphosphate Aldolase; Deficiency, Fructose-1-Phosphate Aldolase; Fructose 1 Phosphate Aldolase Deficiency; Fructose 1,6 Biphosphate Aldolase Deficiency; Fructose 1,6 Bisphosphate Aldolase B Deficiency; Fructose Intolerances; Fructose Intolerances, Hereditary; Fructose-1,6-Biphosphate Aldolase Deficiencies; Fructose-1-Phosphate Aldolase Deficiencies; Fructosemias; Hereditary Fructose Intolerances; Intolerances, Fructose

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Fructose Metabolism
        Fructose Intolerance: 295
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Fructose Metabolism
        Fructose Intolerance: 295

Shaza Shamdeen Selected Research

Shaza Shamdeen Research Topics

Disease

Drug/Important Bio-Agent (IBA)