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Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

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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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Acknowledgments

We are thankful to the patients and their family members for their participation in this research study.

Conflict of interest

All authors have declared that they do not have a financial relationship with the organization that sponsored the research.

Author information

Authors and Affiliations

  1. Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, 17666, United Arab Emirates

    Aisha M. Al-Shamsi, Jozef Hertecant & Fatma Al-Jasmi

  2. Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates

    Aisha M. Al-Shamsi, Jozef Hertecant & Fatma Al-Jasmi

  3. Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates

    Salma Ben-Salem

Authors
  1. Aisha M. Al-Shamsi
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  2. Salma Ben-Salem
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  3. Jozef Hertecant
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  4. Fatma Al-Jasmi
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Corresponding author

Correspondence to Fatma Al-Jasmi.

Additional information

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

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