Abstract
Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and cardiac abnormalities, and urinary excretion of polyols. This report describes four Emirati patients with transaldolase deficiency caused by the homozygous p.R192C missense mutation in TALDO1 displaying wide phenotypic variability. The patients had variable clinical presentations including hepatosplenomegaly, pancytopenia, liver failure, proteinuria, hydrops fetalis, cardiomyopathy, and skin manifestations (e.g., dryness, cutis laxa, ichthyosis, telangiectasias, and hemangiomas). Biochemical analyses including urinary concentration of polyols were consistent with transaldolase deficiency. The mutation p.R192C was previously identified in an Arab patient, suggesting a founder effect in Arab populations.
Conclusion: The above findings support the premise that biallelic mutations in TALDO1 are responsible for transaldolase deficiency and confirm the broad phenotypic variability of this condition, even with the same genotype.
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Abbreviations
- ALP:
-
Alkaline phosphatase
- ALT:
-
Alanine transaminase
- ANC:
-
Absolute neutrophil count
- APTT:
-
Activated partial thromboplastin time
- ASD:
-
Atrial septal defect
- AST:
-
Aspartate transaminase
- ATP:
-
Adenosine triphosphate
- BMI:
-
Body mass index
- CBC:
-
Complete blood count
- DNA:
-
Deoxyribonucleic acid
- EDTA:
-
Ethylenediaminetetraacetic acid
- GGT:
-
Gamma-glutamyl transpeptidase
- GSH:
-
Glutathione
- Hb:
-
Hemoglobin
- INR:
-
International normalized ratio
- IVC:
-
Inferior vena cava
- MRI:
-
Magnetic resonance imaging
- NADPH:
-
Nicotinamide adenine dinucleotide phosphate
- NG:
-
Nasogastric
- PCR:
-
Polymerase chain reaction
- PDA:
-
Patent ductus arteriosus
- PFO:
-
Patent foramen ovale
- PPP:
-
Pentose phosphate pathway
- PT:
-
Prothrombin time
- RNA:
-
Ribonucleic acid
- UAE:
-
United Arab Emirates
- US:
-
Ultrasound
- WBC:
-
White blood cell
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We are thankful to the patients and their family members for their participation in this research study.
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All authors have declared that they do not have a financial relationship with the organization that sponsored the research.
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Communicated by Beat Steinmann
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Al-Shamsi, A.M., Ben-Salem, S., Hertecant, J. et al. Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. Eur J Pediatr 174, 661–668 (2015). https://doi.org/10.1007/s00431-014-2449-5
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DOI: https://doi.org/10.1007/s00431-014-2449-5