Clinical and molecular characteristics of two transaldolase-deficient patients.
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.


CONCLUSIONS
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.
Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland, atylki@op.pl.
Anna
A
Tylki-Szymanska
Mirjam M C
MM
Wamelink
Teresa J
TJ
Stradomska
Gajja S
GS
Salomons
Joanna
J
Taybert
Nel
N
Dąbrowska-Leonik
Małgorzata
M
Rurarz
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D002849:Chromatography, Gas; D002853:Chromatography, Liquid; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D018507:Gene Expression Regulation, Developmental; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D014153:Transaldolase / Q000097:blood* / Q000172:deficiency* / Q000235:genetics
D004247:DNA; D014153:Transaldolase