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Fructose-1,6-Diphosphatase Deficiency MeSH Descriptor Data 2025


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
Fructose-1,6-Diphosphatase Deficiency Preferred
Deficiency, Hexosediphosphatase Broader
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