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Journal of Inherited Metabolic Disease

, Volume 28, Issue 2, pp 169–179 | Cite as

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

  • N. M. Verhoeven
  • M. Wallot
  • J. H. J. Huck
  • O. Dirsch
  • A. Ballauf
  • U. Neudorf
  • G. S. Salomons
  • M. S. van der Knaap
  • T. Voit
  • C. Jakobs
Article

Summary

This paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically, this patient presented in the neonatal period with several signs of severe liver failure: severe coagulopathy, low serum protein, elevated blood ammonia, and hypoglycaemia. She had generalized oedema, moderate muscular hypotonia, and dysmorphic signs. Liver size was decreased, and the spleen was moderately enlarged. There was severe cardiomegaly. The clinical course was characterized by intractable liver failure and progressive myocardial hypertrophy. The child died at the age of 18 days from respiratory failure. In urine, elevations of erythritol, arabitol and ribitol were found, suggesting a deficiency of transaldolase. Enzyme studies in cultured fibroblasts showed undetectable transaldolase activity. DNA sequence analysis of the TALDO1 gene showed a homozygous missense mutation (575G>A), resulting in an amino acid alteration at position 192 (arginine to histidine, R192H). This amino acid is part of the catalytic site of the transaldolase protein. Discovery of this second patient affected with transaldolase deficiency and liver failure suggests that this disorder has a heterogenous clinical presentation with highly variable severity.

Keywords

Cardiomyopathy Respiratory Failure Liver Failure Erythritol Myocardial Hypertrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • N. M. Verhoeven
    • 1
    • 5
  • M. Wallot
    • 2
  • J. H. J. Huck
    • 1
    • 3
  • O. Dirsch
    • 4
  • A. Ballauf
    • 2
  • U. Neudorf
    • 2
  • G. S. Salomons
    • 1
  • M. S. van der Knaap
    • 3
  • T. Voit
    • 2
  • C. Jakobs
    • 1
  1. 1.Metabolic Laboratory, Department of Clinical ChemistryVU University Medical CenterAmsterdamThe Netherlands
  2. 2.Department of Pediatrics and Pediatric NeurologyUniversity Hospital EssenEssenGermany
  3. 3.Department of Child NeurologyVU University Medical CenterAmsterdamThe Netherlands
  4. 4.Department of PathologyUniversity Hospital EssenEssenGermany
  5. 5.Metabolic Laboratory, Department of Clinical ChemistryVU University Medical CenterAmsterdamThe Netherlands

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