Hereditary fructose intolerance
General Information (adopted from Orphanet):
Synonyms, Signs: |
ALDOLASE B DEFICIENCY ALDOB DEFICIENCY FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY FRUCTOSEMIA Hereditary fructosemia Hereditary fructose-1-phosphate aldolase deficiency |
Number of Symptoms | 38 |
OrphanetNr: | 469 |
OMIM Id: |
229600
|
ICD-10: |
E74.1 |
UMLs: |
|
MeSH: |
D005633 |
MedDRA: |
10019878 |
Snomed: |
20052008 |
Prevalence, inheritance and age of onset:
Prevalence: | 5 of 100 000 [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Congenital intestinal transport defect
-Rare gastroenterologic disease -Rare genetic disease Disorder of carbohydrate absorption and transport -Rare genetic disease Disorder of fructose metabolism -Rare genetic disease Metabolic liver disease -Rare genetic disease -Rare hepatic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease |
Symptom Information:
|
(HPO:0003076) | Glycosuria | 32 / 7739 | ||||
|
(HPO:0000114) | Proximal tubulopathy | 18 / 7739 | ||||
|
(HPO:0002049) | Proximal renal tubular acidosis | 8 / 7739 | ||||
|
(HPO:0003109) | Hyperphosphaturia | 18 / 7739 | ||||
|
(HPO:0008273) | Transient aminoaciduria | 1 / 7739 | ||||
|
(HPO:0003149) | Hyperuricosuria | 7 / 7739 | ||||
|
(HPO:0003646) | Bicarbonaturia | 3 / 7739 | ||||
|
(HPO:0001254) | Lethargy | 104 / 7739 | ||||
|
(HPO:0001270) | Motor delay | 322 / 7739 | ||||
|
(HPO:0001259) | Coma | 65 / 7739 | ||||
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
(HPO:0002027) | Abdominal pain | 184 / 7739 | ||||
|
(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
|
(HPO:0001394) | Cirrhosis | 102 / 7739 | ||||
|
(HPO:0001397) | Hepatic steatosis | 75 / 7739 | ||||
|
(HPO:0002239) | Gastrointestinal hemorrhage | 97 / 7739 | ||||
|
(HPO:0004395) | Malnutrition | 12 / 7739 | ||||
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
(HPO:0002018) | Nausea | 44 / 7739 | ||||
|
(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
(HPO:0002584) | Intestinal bleeding | 16 / 7739 | ||||
|
(HPO:0002017) | Nausea and vomiting | 134 / 7739 | ||||
|
(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
|
(HPO:0001510) | Growth delay | 295 / 7739 | ||||
|
(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
|
(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
|
(HPO:0002149) | Hyperuricemia | 37 / 7739 | ||||
|
(HPO:0002148) | Hypophosphatemia | 43 / 7739 | ||||
|
(HPO:0005973) | Fructose intolerance | 2 / 7739 | ||||
|
(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
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(HPO:0001942) | Metabolic acidosis | 81 / 7739 | ||||
|
(HPO:0002904) | Hyperbilirubinemia | 32 / 7739 | ||||
|
(OMIM) | Fructose-1,6-bisphosphate aldolase B deficiency | 1 / 7739 | ||||
|
(OMIM) | Fructosemia | 1 / 7739 | ||||
|
(OMIM) | Aversion to sweets and fruit | 1 / 7739 | ||||
|
(OMIM) | Absent dental caries | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can ... |
Diagnosis OMIM |
In aldolase B-deficient tissues, cytoplasmic accumulation of fructose-1-phosphate leads to sequestration of inorganic phosphate with resulting activation of AMP deaminase that catalyzes the irreversible deamination of AMP to IMP (inosine monophosphate), a precursor of uric acid. In the ... |
Clinical Description OMIM |
Chambers and Pratt (1956) first reported fructose intolerance in a 24-year-old woman who complained of nausea, abdominal pain, and faintness after ingesting sugar and fructose. She did not enjoy sweet tastes. The authors termed the phenomenon 'idiosyncrasy to ... |
Molecular genetics OMIM |
In affected individuals from several unrelated families with fructose intolerance, Cross et al. (1988) identified homozygosity for a mutation in the ALDOB gene (A149P; 612724.0001). The findings indicated that this mutation may be a common cause of the ... |
Population genetics OMIM |
The incidence of hereditary fructose intolerance in the Caucasian population has been estimated at 1 in 20,000 births (Cross et al., 1990). By haplotype analysis, Tolan (1995) demonstrated that the A149P (612724.0001) and A174D (612724.0002) ALDOB ... |