title: Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
abstract: Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for gestational age, with cutis laxa and hypertrichosis. Postnatally, meconium plug was identified, complicated with intestinal obstruction necessitating laparotomy, partial resection of the intestine, and ileostomy. Liver biopsy revealed cholangiolar proliferation and portal fibrosis. He also suffered from persistent congenital thrombocytopenia requiring platelet transfusions and severe hypothyroidism with normal anatomical and structural gland responding only to the combination of T3 and T4 treatment. Neurologically, severe hypotonia and anisocoria were noted at the age of 2 months. Brain MRI was normal. Shortly after the abdominal surgery, a rapid liver failure ensued, which eventually led to his death. Specific metabolic tests ruled out glycosylation disorders, yet urine analysis using 1H NMR showed accumulation of sedoheptulose which was previously described in patients with transaldolase deficiency. Sequencing of the gene-encoding transaldolase (TALDO1) revealed a homozygous stop mutation c.669C>G; p.Tyr223*. In conclusion, we present an infant with a novel homozygous mutation in TALDO1, causing TALDO deficiency, and extend the clinical characteristics of this rare syndrome.
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel. ehud.banne@gmail.com.
authors.forename: Ehud
authors.initials: E
authors.lastname: Banne
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Vardiella
authors.initials: V
authors.lastname: Meiner
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.|Monique and Jacques Roboh Department of Genetic Research, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Avraham
authors.initials: A
authors.lastname: Shaag
authors.affiliation: Department of Radiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Katz-Brull
authors.affiliation: Department of Radiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Gamliel
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.|Monique and Jacques Roboh Department of Genetic Research, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Stanley
authors.initials: S
authors.lastname: Korman
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Smadar Horowitz
authors.initials: SH
authors.lastname: Cederboim
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Morasha Plesser
authors.initials: MP
authors.lastname: Duvdevani
authors.affiliation: Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.|Monique and Jacques Roboh Department of Genetic Research, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Ayala
authors.initials: A
authors.lastname: Frumkin
authors.affiliation: Pediatric Intensive Care Unit, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Amir
authors.initials: A
authors.lastname: Zilkha
authors.affiliation: Pediatric Surgery, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Vadim
authors.initials: V
authors.lastname: Kapuller
authors.affiliation: Pediatric Surgery, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Dan
authors.initials: D
authors.lastname: Arbell
authors.affiliation: Neonatal Intensive Care Unit, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Elite
authors.initials: E
authors.lastname: Cohen
authors.affiliation: Neonatal Intensive Care Unit, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Smadar
authors.initials: S
authors.lastname: Eventov-Friedman
keywords: Cutis laxa; Echogenic bowel; Hypothyroidism; Microarray analysis; Transaldolase