Document Detail


A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
MedLine Citation:
PMID:  15877206     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 heterogeneous clinical presentation with highly variable severity.
Authors:
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
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  28     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2005  
Date Detail:
Created Date:  2005-05-06     Completed Date:  2005-08-04     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  169-79     Citation Subset:  IM    
Affiliation:
Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. n.verhoeven@vumc.nl
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MeSH Terms
Descriptor/Qualifier:
Cardiomyopathies / diagnosis,  etiology*,  metabolism
Fatal Outcome
Female
Humans
Infant, Newborn
Infant, Newborn, Diseases / diagnosis,  etiology,  genetics
Liver Failure, Acute / diagnosis,  etiology*,  metabolism
Metabolism, Inborn Errors / complications*,  diagnosis,  genetics
Monosaccharides / urine
Mutation, Missense
Polymers / metabolism
Severity of Illness Index*
Transaldolase / deficiency,  genetics*
Chemical
Reg. No./Substance:
0/Monosaccharides; 0/Polymers; 0/polyol; EC 2.2.1.2/Transaldolase

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