fructose-1,6-bisphosphatase deficiency

MeSH: D015319ORPHA: 348

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

carbohydrate metabolic disorder that has material basis in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with fructose-1,6-bisphosphatase deficiency, sourced from HPO and Orphanet clinical annotations.

Metabolic acidosisHypoglycemiaLactic acidosisAbnormal circulating enzyme concentration or activityVomitingDiarrheaHyperuricemiaFasting hypoglycemiaIntermittent lactic acidemiaIrritabilityPallorIntellectual disabilitySeizureHypotoniaComaExcessive daytime somnolenceHepatic steatosisTachycardiaKetosisNeonatal hypoglycemiaDyspneaRespiratory distressVentriculomegalyHepatomegalyDrowsinessEpisodic tachypneaElevated circulating hepatic transaminase concentrationNeonatal hyperbilirubinemiaReduced consciousnessIntermittent hyperventilationApneic episodes in infancyReye syndrome-like episodesIncreased urinary glycerolHyperalaninemia

Classification & Codes

MeSH Code

D015319

Orphanet Code

ORPHA:348

fructose-1,6-bisphosphatase deficiency

MeSH	`D015319`
Orphanet	`ORPHA:348`
Treatments	0 drug(s)
Symptoms on record	34 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO