Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
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.
Valayannopoulos
Vassili
V
Metabolic Unit, Necker-Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France.
Verhoeven
Nanda M
NM
Mention
Karine
K
Salomons
Gajja S
GS
Sommelet
Danièle
D
Gonzales
Marie
M
Touati
Guy
G
de Lonlay
Pascale
P
Jakobs
Cornelis
C
Saudubray
Jean-Marie
JM
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
D015415:Biomarkers; D013402:Sugar Alcohols; D012255:Ribitol; D014153:Transaldolase; D004896:Erythritol; C014999:arabitol