loading...| Preferred Name |
Fructose-1,6-Diphosphatase Deficiency |
| Synonyms |
Deficiencies, Fructose-Biphosphatase |
| Definitions |
An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. |
| ID |
http://purl.bioontology.org/ontology/MESH/D015319 |
| altLabel |
Deficiencies, Fructose-Biphosphatase Deficiencies, Fructose-1,6-Bisphosphatase Fructose Biphosphatase Deficiency Deficiency, Hexosediphosphatase Deficiencies, Fructosediphosphatase Deficiency, Fructose-1,6-Bisphosphatase Hexosediphosphatase Deficiencies Deficiencies, Fructose-1,6-Diphosphatase Fructosediphosphatase Deficiency Deficiency, Fructose-1,6-Diphosphatase Fructose-1,6-Diphosphatase Deficiencies Fructose-1,6-Bisphosphatase Deficiency Hexosediphosphatase Deficiency Fructose 1,6 Diphosphatase Deficiency Fructose-Biphosphatase Deficiencies Fructose-1,6-Bisphosphatase Deficiencies Deficiency, Fructosediphosphatase Deficiencies, Hexosediphosphatase Fructose-Biphosphatase Deficiency Deficiency, Fructose-Biphosphatase Fructosediphosphatase Deficiencies Fructose 1,6 Bisphosphatase Deficiency |
| 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 |
C0019489 C0016756 |
| DC |
1 |
| definition |
An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. |
| DX |
19910101 |
| HN |
91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB | |
| Machine permutation |
91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 |
| Mapped from | |
| MDA |
19880531 |
| MMR |
20120703 |
| MN |
C16.320.565.202.251.221 C18.452.648.202.251.221 |
| notation |
D015319 |
| prefLabel |
Fructose-1,6-Diphosphatase Deficiency |
| TERMUI |
T045055 T045054 T045052 T045056 T045051 T045057 T045053 |
| TH |
UNK (19XX) NLM (1989) NLM (1994) OMIM (2013) |
| tui |
T047 |
| subClassOf |