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: Sort by abundance 

1
(HPO:0003076) Glycosuria 32 / 7739
2
(HPO:0000114) Proximal tubulopathy 18 / 7739
3
(HPO:0002049) Proximal renal tubular acidosis 8 / 7739
4
(HPO:0003109) Hyperphosphaturia 18 / 7739
5
(HPO:0008273) Transient aminoaciduria 1 / 7739
6
(HPO:0003149) Hyperuricosuria 7 / 7739
7
(HPO:0003646) Bicarbonaturia 3 / 7739
8
(HPO:0001254) Lethargy 104 / 7739
9
(HPO:0001270) Motor delay 322 / 7739
10
(HPO:0001259) Coma 65 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0002027) Abdominal pain 184 / 7739
15
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
16
(HPO:0001394) Cirrhosis 102 / 7739
17
(HPO:0001397) Hepatic steatosis 75 / 7739
18
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
19
(HPO:0004395) Malnutrition 12 / 7739
20
(HPO:0002013) Vomiting 191 / 7739
21
(HPO:0002018) Nausea 44 / 7739
22
(HPO:0000952) Jaundice 105 / 7739
23
(HPO:0002584) Intestinal bleeding 16 / 7739
24
(HPO:0002017) Nausea and vomiting 134 / 7739
25
(HPO:0002240) Hepatomegaly 467 / 7739
26
(HPO:0001510) Growth delay 295 / 7739
27
(HPO:0001508) Failure to thrive 454 / 7739
28
(HPO:0003128) Lactic acidosis 116 / 7739
29
(HPO:0002149) Hyperuricemia 37 / 7739
30
(HPO:0002148) Hypophosphatemia 43 / 7739
31
(HPO:0005973) Fructose intolerance 2 / 7739
32
(HPO:0001943) Hypoglycemia 131 / 7739
33
(HPO:0001942) Metabolic acidosis 81 / 7739
34
(HPO:0002904) Hyperbilirubinemia 32 / 7739
35
(OMIM) Fructose-1,6-bisphosphate aldolase B deficiency 1 / 7739
36
(OMIM) Fructosemia 1 / 7739
37
(OMIM) Aversion to sweets and fruit 1 / 7739
38
(OMIM) Absent dental caries 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...