loading...| Preferred Name |
Fructose Intolerance |
|
| Synonyms |
Fructose 1 Phosphate Aldolase Deficiency |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005633 |
|
| altLabel |
Fructose 1 Phosphate Aldolase Deficiency Deficiencies, Fructose-1-Phosphate Aldolase Aldolase Deficiency, Fructose-1,6-Biphosphate Intolerances, Fructose Aldolase Deficiency, Fructose-1-Phosphate Deficiency, ALDOB Fructosemia Fructose-1,6-Biphosphate Aldolase Deficiency ALDOB Deficiency Hereditary Fructose Intolerances Deficiency, Aldolase B Fructose 1,6 Biphosphate Aldolase Deficiency Deficiencies, Aldolase B Fructose Intolerances Hereditary Fructose Intolerance Fructose-1,6-Biphosphate Aldolase Deficiencies Deficiencies, ALDOB Aldolase Deficiencies, Fructose-1,6-Biphosphate Fructose Intolerance, Hereditary Deficiency, Fructose-1,6-Biphosphate Aldolase Fructose-1-Phosphate Aldolase Deficiencies Fructose Aldolase B Deficiency Aldolase B Deficiencies Deficiency, Fructose-1-Phosphate Aldolase Intolerance, Fructose ALDOB Deficiencies Fructose-1,6-Bisphosphate Aldolase B Deficiency Fructosemias Fructose-1-Phosphate Aldolase Deficiency Deficiencies, Fructose-1,6-Biphosphate Aldolase Fructose Intolerances, Hereditary Aldolase Deficiencies, Fructose-1-Phosphate Fructose 1,6 Bisphosphate Aldolase B Deficiency Aldolase B Deficiency |
|
| AN |
an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0016751 |
|
| DC |
1 |
|
| definition |
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. |
|
| DX |
19910101 |
|
| FX |
D005634 |
|
| HN |
1991(1975); use FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; use CARBOHYDRATE METABOLISM, INBORN ERRORS 1964-1988 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1991; see FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; see CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-1988 |
|
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C16.320.565.202.251.271 C18.452.648.202.251.271 |
|
| notation |
D005633 |
|
| prefLabel |
Fructose Intolerance |
|
| TERMUI |
T811545 T817356 T811547 T750973 T750974 T811546 T017036 T811543 T750971 T750972 |
|
| TH |
OMIM (2013) NLM (1975) NLM (2013) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |