Fructose Intolerance, Hereditary

Description

Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance.

Clinical Features

Top most frequent phenotypes and symptoms related to Fructose Intolerance, Hereditary

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Hepatomegaly
  • Pain
  • Coma
  • Vomiting
  • Acidosis
  • Elevated hepatic transaminase
  • Abdominal pain
And another 35 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Fructose Intolerance, Hereditary have a estimated prevalence of 5 per 100k worldwide.


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Fructose Intolerance, Hereditary Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ALDOB Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

ALDOB
Specificity
100 %
Genes
100 %
ALDOB Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDOB
Specificity
100 %
Genes
100 %
ALDOB, FBP1,GYS2 & PC Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDOB, FBP1, PC, GYS2
Specificity
25 %
Genes
100 %
ALDOB Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ALDOB
Specificity
100 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Gluconeogenesis Disorders.

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

ALDOB, FBP1, PC, GYS2
Specificity
25 %
Genes
100 %
ALDOB. Detection of the mutations p.Ala150Pro, p.Ala175Asp and p.Asn335Lys by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ALDOB
Specificity
100 %
Genes
100 %
ALDOB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ALDOB
Specificity
100 %
Genes
100 %
Fructose intolerance (sequence analysis of ALDOB gene).

By CGC Genetics in Portugal.

ALDOB
Specificity
100 %
Genes
100 %
Fructose intolerance (sequence analysis of ALDOB gene).

By CGC Genetics in Portugal.

ALDOB
Specificity
100 %
Genes
100 %
Frutosis intolerance (deletions/duplications analysis of ALDOB gene).

By CGC Genetics in Portugal.

ALDOB
Specificity
100 %
Genes
100 %
Frutosis intolerance (deletions/duplications analysis of ALDOB gene).

By CGC Genetics in Portugal.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

ALDOB
Specificity
100 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Hereditary Fructose Intolerance via ALDOB Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALDOB
Specificity
100 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary Fructose Intolerance.

By Bioscientia GmbH Center for Human Genetics in Germany.

ALDOB
Specificity
100 %
Genes
100 %
Aldolase B deficiency (ALDOB).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

ALDOB
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Fructose intolerance.

By Centogene AG - the Rare Disease Company in Germany.

ALDOB
Specificity
100 %
Genes
100 %
Fructose intolerance, hereditary.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

ALDOB
Specificity
100 %
Genes
100 %
Single gene testing ALDOB.

By CeGaT GmbH in Germany.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance - ALDOB.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

ALDOB
Specificity
100 %
Genes
100 %
Fructosemia.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance (ALDOB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

ALDOB
Specificity
100 %
Genes
100 %
Fructose intolerance.

By Praxis fuer Humangenetik Wien in Austria.

ALDOB
Specificity
100 %
Genes
100 %
Fructose intolerance.

By Praxis fuer Humangenetik Wien in Austria.

ALDOB
Specificity
100 %
Genes
100 %
ALDOB.

By Division Human Genetics Medical University Innsbruck in Austria.

ALDOB
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Fructose intolerance.

By MedGene in Slovakia.

ALDOB
Specificity
100 %
Genes
100 %
Fructose intolerance.

By MedGene in Slovakia.

ALDOB
Specificity
100 %
Genes
100 %
Invitae Hereditary Fructose Intolerance Test.

By Invitae in United States.

ALDOB
Specificity
100 %
Genes
100 %
Aldolase B (hereditary fructose intolerance): ALDOB gene mutations analysis (p.A149P, p.A174D, p.N334K).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALDOB
Specificity
100 %
Genes
100 %
Aldolase B (hereditary fructose intolerance): ALDOB gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALDOB
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Hereditary Fructose Intolerance: ALDOB full gene sequence analysis.

By DLE - Diagnosticos Laboratoriais Especializados in Brazil.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance (ALDOB).

By Integrated Genetics Westborough Integrated Genetics in United States.

ALDOB
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
ALDOB.

By Fulgent Genetics Fulgent Genetics in United States.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance (HFI).

By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory in United States.

ALDOB
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Congenital Mono- and Disaccharide Disorders Panel.

By Blueprint Genetics in Finland.

ALDOB, GALT, GALE, GALK1, SLC2A1, SLC2A2, SI, LCT, SLC5A1
Specificity
12 %
Genes
100 %
Metabolic Liver Failure Panel.

By Blueprint Genetics in Finland.

ALDOB, ATP7B, SMPD1, PHKA2, FAH, PYGL, PHKG2, MPI, PHKB, GALT, GALE, GALK1, LIPA, NPC1, NPC2, SERPINA1
Specificity
7 %
Genes
100 %
Hereditary fructose intolerance.

By Bioarray in Spain.

ALDOB
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
FRUCTOSE INTOLERANCE or FRUCTOSEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

ALDOB
Specificity
100 %
Genes
100 %
Aldolase B (Hereditary Intolerance To Fructose) , Sequencing ALDOB Gene.

By Reference Laboratory Genetics in Spain.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance, Mutations (A149P, A174D, N334K and del4E4) ALDOB Gene.

By Reference Laboratory Genetics in Spain.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1
Specificity
50 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1, PC, HSD17B4, PSAP, GNPTAB, GLB1, GNE, DLD, SMPD1, PDHB, PCK2, SCP2, CTSD, PDP1, GRN, AGPS, PDHA1, ABCD1, HEXA , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Hereditary Fructose Intolerance.

By Labor Dr. Wisplinghoff in Germany.

ALDOB
Specificity
100 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Hereditary Fructose Intolerance: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ALDOB
Specificity
100 %
Genes
100 %
Hereditary Fructose Intolerance: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ALDOB
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Fructose Intolerance, Hereditary Is also known as fructosemia, fructose-1-phosphate aldolase deficiency, fructose-1,6-bisphosphate aldolase b deficiency, aldolase b deficiency, aldob deficiency;hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia.


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