fructose-1,6-bisphosphatase deficiency
Findings
No curated finding names fructose-1,6-bisphosphatase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Definition from the Mondo Disease Ontology (MONDO:0009251), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypoglycemiaHPO · MondoHP:0001943
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPO · MondoHP:0001942
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Lactic acidosisHPOHP:0003128
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Fasting hypoglycemiaHPOHP:0003162
- Frequent (30% to 79% of cases)
Show the remaining 22
- DyspneaHPOHP:0002094
- Occasional (5% to 29% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Occasional (5% to 29% of cases)
- Episodic tachypneaHPOHP:0002876
- Occasional (5% to 29% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Occasional (5% to 29% of cases)
- Hepatic steatosisHPOHP:0001397
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FBP1HGNC:3606
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: fructose-1,6-bisphosphatase deficiency
- Also called
- fructose-1,6-diphosphatase deficiency