MeSH Browser

MeSH Heading: Fructose-1,6-Diphosphatase Deficiency
Tree Number(s): C16.320.565.202.251.221; C18.452.648.202.251.221
Unique ID: D015319
RDF Unique Identifier: http://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.
Entry Version: FDP DEFIC
Entry Term(s): Deficiency, Hexosediphosphatase; Fructose 1,6 Diphosphatase Deficiency; Fructose-1,6-Bisphosphatase Deficiency; Fructose-Biphosphatase Deficiency; Fructosediphosphatase Deficiency; Hexosediphosphatase Deficiency
Previous Indexing: Hexosediphosphatase/deficiency (1970-1988)
Public MeSH Note: 91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90
History Note: 91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90
Date Established: 1991/01/01
Date of Entry: 1988/05/31
Revision Date: 2012/07/03

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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.
Terms: Fructose-1,6-Diphosphatase Deficiency Preferred Term
Term UI T045053
Date01/01/1999
LexicalTag NON
ThesaurusID NLM (1989); Fructose-1,6-Bisphosphatase Deficiency
Term UI T045051
Date05/31/1988
LexicalTag NON
ThesaurusID; Fructose 1,6 Diphosphatase Deficiency
Term UI T045052
Date05/31/1988
LexicalTag NON
ThesaurusID UNK (19XX); Fructose-Biphosphatase Deficiency
Term UI T045054
Date11/13/1992
LexicalTag NON
ThesaurusID NLM (1994); Fructosediphosphatase Deficiency
Term UI T045055
Date05/31/1988
LexicalTag NON
ThesaurusID UNK (19XX)

Fructose-1,6-Diphosphatase Deficiency MeSH Descriptor Data 2024