Clinical and molecular characteristics of two transaldolase-deficient patients

Anna Tylki-Szymanska,Mirjam M. C. Wamelink,Małgorzata Rurarz,Joanna Taybert,Teresa J. Stradomska,Nel Dąbrowska-Leonik,Gajja S. Salomons

doi:10.1007/s00431-014-2261-2

Anna Tylki-Szymanska, Mirjam M. C. Wamelink + Show 5 more

Open Access

https://doi.org/10.1007/s00431-014-2261-2

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Abstract

Transaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of affected patients contain increased polyol concentrations and seven-carbon chain carbohydrates. We report the molecular and clinical findings in two recently diagnosed transaldolase-deficient children, both presented at birth. During infancy, they presented thin skin with a network of visible vessels, spider telangiectasias and multiple haemangiomas. Such unusual skin changes are characteristic of liver damage. Later, the patients developed rapidly progressive nodular liver fibrosis, tubulopathy and severe clotting disturbances. The clinical features of these patients were in line with previously studied patients with transaldolase deficiency. The diagnosis was established by detecting high concentrations of erythritol, ribitol, arabitol, sedoheptitol, perseitol, sedoheptulose and sedoheptulose-7-phosphate in the urine. Detection was made by gas chromatography and liquid chromatography-tandem mass spectrometry and then confirmed by molecular analysis of the TALDO gene. Conclusion: Transaldolase deficiency, a rare early-onset multisystem disease, should be considered by neonatologists, paediatricians, hepatologists and nephrologists in the differential diagnosis of patients presenting hepatosplenomegaly, thrombocytopenia, anaemia, bleeding diathesis, liver failure and tubulopathy.

Highlights

Transaldolase (TALDO) deficiency (OMIM 606003) is an inborn error of the pentose phosphate pathway, which is a severe, early-onset multisystem disease
Ribitol, arabitol, sedoheptitol, perseitol, sedoheptulose and sedoheptulose-7P in the urine was detected by gas chromatography (GC) and liquid chromatography-tandem mass spectrometry (LC-MS/MS; Table 1), which is indicative of TALDO deficiency [5, 8, 9]
The clinical features were characteristic of TALDO deficiency, and diagnosis was confirmed via biochemical and molecular methods

Summary

Introduction

Transaldolase (TALDO) deficiency (OMIM 606003) is an inborn error of the pentose phosphate pathway, which is a severe, early-onset multisystem disease. The leading symptoms in transaldolase-deficient patients are anaemia, bleeding problems with thrombocytopenia, hepatosplenomegaly, nodular progressive hepatic fibrosis and later on nephropathy. We present the clinical biochemical and molecular findings of two recently diagnosed transaldolase-deficient patients from two unrelated Polish families. They presented anaemia, bleeding diathesis, hepatosplenomegaly and liver involvement. In contrast with their physical development, psychomotor development was normal. Both presented a characteristic of thin skin with a network of visible vessels, spider telangiectasias, and multiple haemangiomas. These skin changes, characteristic of liver damage, immediately made us consider transaldolase deficiency (Fig 1)

Materials and methods

Discussion