Fructose-1,6-bisphosphatase Deficiency

Description

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

Clinical Features

Top most frequent phenotypes and symptoms related to Fructose-1,6-bisphosphatase Deficiency

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever
  • Vomiting
  • Dyspnea
  • Acidosis
  • Hypoglycemia
  • Apnea

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Fructose-1,6-bisphosphatase Deficiency Is also known as fructose-1,6-diphosphatase deficiency, fbpase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Fructose-1,6-bisphosphatase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ALDOB, FBP1,GYS2 & PC Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBP1, ALDOB, GYS2, PC
Specificity
25 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
FBP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FBP1
Specificity
100 %
Genes
100 %
FBP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBP1
Specificity
100 %
Genes
100 %
FBP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBP1
Specificity
100 %
Genes
100 %
FBP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBP1
Specificity
100 %
Genes
100 %
Gluconeogenesis Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

FBP1, ALDOB, GYS2, PC
Specificity
25 %
Genes
100 %
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SLC2A2, AGL, ENO3, FBP1, G6PC, SLC37A4, GAA, ALDOA, ALDOB, GBE1, GYG1, GYS1, GYS2, KHK, PC, PFKL, PFKM, PGAM2, PGM1, PHKA1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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