title: 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.
authors.affiliation: Metabolic Unit, Necker-Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France.
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Nanda M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: Karine
authors.initials: K
authors.lastname: Mention
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Danièle
authors.initials: D
authors.lastname: Sommelet
authors.forename: Marie
authors.initials: M
authors.lastname: Gonzales
authors.forename: Guy
authors.initials: G
authors.lastname: Touati
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D015415:Biomarkers / Q000652:urine; D003241:Consanguinity; D004896:Erythritol / Q000652:urine; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000201:enzymology / Q000473:pathology; D017353:Gene Deletion; D006801:Humans; D015160:Hydrops Fetalis / Q000201:enzymology* / Q000652:urine; D007231:Infant, Newborn; D008297:Male; D009102:Multiple Organ Failure / Q000151:congenital / Q000201:enzymology* / Q000652:urine; D012255:Ribitol / Q000652:urine; D013402:Sugar Alcohols / Q000652:urine; D014153:Transaldolase / Q000172:deficiency* / Q000235:genetics; D014421:Turkey
chemical_list: D015415:Biomarkers; D013402:Sugar Alcohols; D012255:Ribitol; D014153:Transaldolase; D004896:Erythritol; C014999:arabitol