| Descriptor English: | Fructose-1,6-Diphosphatase Deficiency | ||||||
| Descriptor Spanish: |
Deficiencia de Fructosa-1,6-Difosfatasa
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| Descriptor Portuguese: | Deficiência de Frutose-1,6-Difosfatase | ||||||
| Descriptor French: | Déficit en fructose-1,6-diphosphatase | ||||||
| Entry term(s): |
Deficiencies, Fructose-1,6-Bisphosphatase Deficiencies, Fructose-1,6-Diphosphatase Deficiencies, Fructose-Biphosphatase Deficiencies, Fructosediphosphatase Deficiencies, Hexosediphosphatase Deficiency, Fructose-1,6-Bisphosphatase Deficiency, Fructose-1,6-Diphosphatase Deficiency, Fructose-Biphosphatase Deficiency, Fructosediphosphatase Deficiency, Hexosediphosphatase Fructose 1,6 Bisphosphatase Deficiency Fructose 1,6 Diphosphatase Deficiency Fructose Biphosphatase Deficiency Fructose-1,6-Bisphosphatase Deficiencies Fructose-1,6-Bisphosphatase Deficiency Fructose-1,6-Diphosphatase Deficiencies Fructose-Biphosphatase Deficiencies Fructose-Biphosphatase Deficiency Fructosediphosphatase Deficiencies Fructosediphosphatase Deficiency Hexosediphosphatase Deficiencies Hexosediphosphatase Deficiency |
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| Tree number(s): |
C16.320.565.202.251.221 C18.452.648.202.251.221 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D015319 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Hexosediphosphatase/deficiency (1970-1988) |
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| Public MeSH Note: | 91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 |
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| History Note: | 91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 |
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| Entry Version: | FDP DEFIC |
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| DeCS ID: | 23636 | ||||||
| Unique ID: | D015319 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1988/05/31 | ||||||
| Revision Date: | 2012/07/03 |
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Fructose-1,6-Diphosphatase Deficiency
- Preferred
Deficiency, Hexosediphosphatase
- Broader
| Concept UI |
M0023587 |
| Scope note | 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. |
| Preferred term | Fructose-1,6-Diphosphatase Deficiency |
| Entry term(s) |
Deficiencies, Fructose-1,6-Bisphosphatase Deficiencies, Fructose-1,6-Diphosphatase Deficiencies, Fructose-Biphosphatase Deficiencies, Fructosediphosphatase Deficiency, Fructose-1,6-Bisphosphatase Deficiency, Fructose-1,6-Diphosphatase Deficiency, Fructose-Biphosphatase Deficiency, Fructosediphosphatase Fructose 1,6 Bisphosphatase Deficiency Fructose 1,6 Diphosphatase Deficiency Fructose Biphosphatase Deficiency Fructose-1,6-Bisphosphatase Deficiencies Fructose-1,6-Bisphosphatase Deficiency Fructose-1,6-Diphosphatase Deficiencies Fructose-Biphosphatase Deficiencies Fructose-Biphosphatase Deficiency Fructosediphosphatase Deficiencies Fructosediphosphatase Deficiency |
| Concept UI |
M0023588 |
| Preferred term | Deficiency, Hexosediphosphatase |
| Entry term(s) |
Deficiencies, Hexosediphosphatase Hexosediphosphatase Deficiencies Hexosediphosphatase Deficiency |
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