Diseases

Fructose-1,6-Diphosphatase Deficiency

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

22 entry terms
  • Fructose 1,6 Diphosphatase Deficiency
  • Fructose-1,6-Bisphosphatase Deficiency
  • Fructose-Biphosphatase Deficiency
  • Fructosediphosphatase Deficiency
  • 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 Biphosphatase Deficiency
  • Fructose-1,6-Bisphosphatase Deficiencies
  • Fructose-1,6-Diphosphatase Deficiencies
  • Fructose-Biphosphatase Deficiencies
  • Fructosediphosphatase Deficiencies
  • Deficiency, Hexosediphosphatase
  • Hexosediphosphatase Deficiency
  • Deficiencies, Hexosediphosphatase
  • Hexosediphosphatase Deficiencies

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90

MeSH Record

Previous Indexing

  • Hexosediphosphatase/deficiency (1970-1988)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.202w.251.221w
  2. C18.452w.648w.202w.251.221w

AMA Style

References

  1. National Library of Medicine. Fructose-1,6-Diphosphatase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D015319. http://id.nlm.nih.gov/mesh/2026/D015319
  2. Fructose-1,6-Diphosphatase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency
  3. Fructose-1,6-Diphosphatase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q3043147