Transaldolase Deficiency

Alternative Names

  • Eyaid Syndrome
  • TALDO Deficiency

Associated Genes

Transaldolase 1
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

606003

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11p15.5

Description

Transaldolase Deficiency is an inborn error of the non-oxidative phase of the pentose phosphate pathway.  This pathway provides the resources for both nucleic acid and lipid biosynthesis.  Patients affected with this condition present with a wide clinical manifestations, which includes hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, male infertility, and anemia.  The kidneys, lungs and heart are also affected.  Patients may show dysmorphic features including downward-slanting palpebral fissures, low-set ears, and cutis laxa.  The condition is extremely rare, with only about 20 cases so far having been reported. 

Diagnosis is made on the basis of the clinical features.  One of the hallmarks of the condition is the presence of abnormal urinary polyol concentration.  Mutation analysis of the TALDO1 gene is used for confirmation of the diagnosis.  At present, there is no treatment for the condition.  Some patients might benefit from liver transplantation.  Other treatment options are in the experimental stage.  

Molecular Genetics

Transaldolase Deficiency is caused by mutations in the TALDO1 gene.  The protein coded by this gene is a key enzyme involved in the pentose phosphate pathway.  Defects in the function of this protein lead to a build-up of sedoheptulose 7-phosphate, and consequently, a block in the release of NADPH.  Transaldolase also plays a role in maintaining the balance between cellular proliferation and apoptosis, and therefore, a deficiency of the enzyme could lead to liver cirrhosis as well as hepatocellular carcinoma.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
606003.1.1United Arab EmiratesMaleYesYes Hepatosplenomegaly; Pancytopenia;NM_006755.2:c.574C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2014 Belongs to a tribe o...
606003.1.2United Arab EmiratesFemaleYesYes Neutropenia; Hepatomegaly; Ichthyosis;...NM_006755.2:c.574C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2014 Paternal aunt of 606...
606003.2United Arab EmiratesFemaleYesYes Hepatosplenomegaly; Cutis laxa; Protei...NM_006755.2:c.574C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2014; Grammatikopoulos et al. 2022 Belongs to a tribe o...
606003.3United Arab EmiratesMaleYesYes Anemia; Hepatosplenomegaly; Cardiomyo...NM_006755.2:c.574C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2014 Belongs to a tribe o...
606003.4.1Saudi ArabiaFemaleYesYes Hepatosplenomegaly; Abnormal facial sha...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013
606003.4.2Saudi ArabiaMaleYesYes Hepatosplenomegaly; Abnormal facial sh...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013 Sibling of 606003.4....
606003.4.3Saudi ArabiaMaleYesYes Hepatosplenomegaly; Abnormal facial sha...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013 Sibling of 606003.4....
606003.5.1Saudi ArabiaMaleYesYes Hepatosplenomegaly; Abnormal facial sha...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013
606003.5.2Saudi ArabiaFemaleYesYes Hepatosplenomegaly; Abnormal facial sh...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013 Sibling of 606003.5....
606003.5.3Saudi ArabiaMaleYesYes Hepatosplenomegaly; Abnormal facial sha...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013 Sibling of 606003.5....
606003.6.1Saudi ArabiaMaleYesYes Respiratory distress; Abnormal facial s...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013
606003.6.2Saudi ArabiaMaleYesYes Abnormal facial shape; Anemia; Thrombo...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013 Sibling of 606003.6....
606003.6.3Saudi ArabiaMaleYesYes Abnormal facial shape; Thrombocytopenia...NM_006755.2:c.793delHomozygousAutosomal, RecessiveEyaid et al. 2013 Sibling of 606003.6....
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