Fructose-1,6-bisphosphatase deficiency
Enzyme or protein defect
Fructose-1,6-bisphosphatase
Accumulates or becomes deficient
Lactate, ketones
Key features
Fasting hypoglycaemia with lactic acidosis and ketosis, hyperventilation
Management
Avoid fasting; glucose during illness
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Hér… · 2026-03-01
open access unreviewed -
2
Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency.
Yazbeck N, Barhoumi A, Karam PE. · 2026-01-08
open access unreviewed -
3
FBP1 promotes ABCG2-mediated uric acid excretion through activation of the PI3K/AKT/CREB signaling pathway.
Bai Q, Wang C, Li J, Fu Y, Xin Y, Chen Z, Liu Z, Zhang D. · 2025-12-05
open access unreviewed -
4
Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.
Magdy RM, Sadek AA, Hemdan SB, Mahmoud AS, Abdel Fattah NH, Abdelkreem E, Abdelatif RG. · 2025-12-01
open access unreviewed -
5
The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency.
Wang H, Luo C, Geng Q, Xu X, Liu Y. · 2025-12-01
open access unreviewed -
6
Unfolding the genetic map of monogenic liver diseases in Egypt.
El-Karaksy H, Mogahed EA, Baroudy S, Ghita H, Enayet A, El-Sharkawy M, Radwan NA, Hosny H, Elmonem MA. · 2025-10-30
open access unreviewed -
7
Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.
Baronio F, Biasucci G, Candela E, Regazzi MG, Di Natale V, Ortolano R, Lanari M. · 2025-08-28
cited 1× open access unreviewed -
8
Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.
Elsayed SM, Mahmoud RG, Fereig YA. · 2025-11-20
cited 1× open access unreviewed -
9
The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.
Lipiński P, Doroba A. · 2025-11-05
open access unreviewed -
10
Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.
Díaz-López EJ, Fernández-Pombo A, Hermida-Ameijeiras Á, Gómez-Vázquez E, Rodríguez-Carnero G, Jiménez-López N… · 2025-10-15
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.