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Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

Abstract
Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new sibship of 4 infants born to the same consanguineous parents; all presented at birth or in the antenatal period with dysmorphic features, cutis laxa and hypertrichosis, hepatomegaly, splenomegaly, liver failure, hemolytic anemia, thrombocytopenia, and genitourinary malformations. The clinical courses were variable: the first child died of liver failure at 4 months of age; the second pregnancy was medically terminated at 28 weeks gestation because of hydrops fetalis with oligohydramnios. The third child is doing well at age 7 with liver fibrosis and mild kidney failure. The fourth child is now 21 months old and has hepatosplenomegaly, mild anemia, and thrombocytopenia. Urine assessment of polyols showed elevations of erythritol, arabitol, and ribitol consistent with TALDO deficiency. TALDO activity was undetectable in the patients' tissues, and mutation in the TALDO1 gene was found in the 4 patients.
AuthorsVassili Valayannopoulos, Nanda M Verhoeven, Karine Mention, Gajja S Salomons, Danièle Sommelet, Marie Gonzales, Guy Touati, Pascale de Lonlay, Cornelis Jakobs, Jean-Marie Saudubray
JournalThe Journal of pediatrics (J Pediatr) Vol. 149 Issue 5 Pg. 713-7 (Nov 2006) ISSN: 0022-3476 [Print] United States
PMID17095351 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Biomarkers
  • Sugar Alcohols
  • Ribitol
  • Transaldolase
  • Erythritol
  • arabitol
Topics
  • Biomarkers (urine)
  • Consanguinity
  • Erythritol (urine)
  • Fatal Outcome
  • Female
  • Fetal Diseases (enzymology, pathology)
  • Gene Deletion
  • Humans
  • Hydrops Fetalis (enzymology, urine)
  • Infant, Newborn
  • Male
  • Multiple Organ Failure (congenital, enzymology, urine)
  • Ribitol (urine)
  • Sugar Alcohols (urine)
  • Transaldolase (deficiency, genetics)
  • Turkey

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