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 · fetched just now · sorted by publication date
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1
Fructose-1,6-bisphosphatase deficiency: the clinical characteristics, molecular consequences of FBP1 variants, and emerging non-canonical functions of FBP1.
Sakuma I, Shulman GI, Tanaka T. · 2026-10-01
unreviewed -
2
Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H. · 2026-09-04
open access unreviewed -
3
Monocarboxylate transporter 1 deficiency: a rare case report and systematic review of genetically confirmed cases.
Khalifa YM, Assem MY, Ahmed ZF, Hasan LT, Qutob IA. · 2026-08-10
open access unreviewed -
4
Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre Experience.
Sulaiman RA, Alqasir I, Alqasabi D, AlTassan R, Tulbah M, Alnemer M, Al-Owain M. · 2026-08-13
cited 1× open access unreviewed -
5
Trichodysplasia Spinulosa in a Japanese Pediatric Patient.
Tomita K, Yamazaki K, Kondo S, Kimura R, Hara M, Kitayama H, Ozono S, Suzuki T, Yagi H. · 2026-06-08
unreviewed -
6
Integrating Genetic Data and Electronic Medical Records to Reassess Variant Pathogenicity in the Taiwanese Han Population.
Lin WD, Liu TY, Chen YC, Liao CC, Tsai FJ. · 2026-07-17
open access unreviewed -
7
Unraveling the molecular landscape and therapeutic strategies for acute kidney injury: insights from transcriptomics, network pharmacology, virtual screening, and in vitro experiments.
Li G, Zeng D, Wang Y, Liu J, Yang D. · 2026-05-14
cited 2× open access unreviewed -
8
Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.
Kılıç M, Sayar E, İcil S, Sezer A. · 2026-03-17
unreviewed -
9
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
cited 1× open access unreviewed -
10
Serum uric acid in pediatric metabolic assessment: the scientific rationale for routine screening and the urgent need for age- and sex-specific diagnostic thresholds.
Salomon I, Ndamukunda Y, Solange M, Zeleke EE. · 2026-09-03
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.