Concept information
Terme préférentiel
Fructose Intolerance
Type
-
mesh:Descriptor
Définition
- 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.
Concept générique
Synonyme(s)
- ALDOB Deficiency
- Aldolase B Deficiency
- Fructose-1,6-Biphosphate Aldolase Deficiency
- Fructose-1,6-Bisphosphate Aldolase B Deficiency
- Fructose-1-Phosphate Aldolase Deficiency
- Fructose Aldolase B Deficiency
- Fructose Intolerance, Hereditary
- Fructosemia
- Hereditary Fructose Intolerance
Qualificatif(s) autorisé(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
Traductions
-
français
-
Déficit héréditaire en fructose-1-phosphate aldolase
-
Fructosémie congénitale
-
Intolérance héréditaire au fructose
URI
http://data.loterre.fr/ark:/67375/JVR-DTF9QP47-7
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