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.

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

“…Telangiectasias are related to significant damage of the liver. Hemangiomas observed in our Patients II, III, and IV, and other patients are probably secondary to disturbed placental formation and function (Verhoeven et al 2001(Verhoeven et al , 2005Loeffen et al 2012;Valayonnopoulos et al 2006;Wamelink et al 2007Wamelink et al , 2008Tylki-Szymanska et al 2009Eyaid et al 2013;LeDuc et al 2013;Jassim et al 2014;Al-Shamsi et al 2015;Banne et al 2016;Rodan and Berry 2017). Nonetheless, cutis laxa or hypertrichosis described by other authors was not present in our patients.…”

“…TALDO also presents with skin manifestations (Verhoeven et al 2001(Verhoeven et al , 2005Loeffen et al 2012;Valayonnopoulos et al 2006;Wamelink et al 2007Wamelink et al , 2008Tylki-Szymanska et al 2009Eyaid et al 2013;LeDuc et al 2013;Jassim et al 2014;Al-Shamsi et al 2015;Banne et al 2016;Rodan and Berry 2017). Telangiectasias are related to significant damage of the liver.…”

“…The patients described in this report presented with normal facial features. As most (79%) of the children reported with TALDO were the offspring of consanguineous parents (including 12 patients from one Arabian tribe) (Verhoeven et al 2001(Verhoeven et al , 2005Loeffen et al 2012;Valayonnopoulos et al 2006;Wamelink et al 2007Wamelink et al , 2008Tylki-Szymanska et al 2009Eyaid et al 2013;LeDuc et al 2013;Jassim et al 2014;Al-Shamsi et al 2015;Banne et al 2016;Rodan and Berry 2017), dysmorphic features should be described by a clinical geneticist/dysmorphologist and should be similar in related patients.…”

“…Transaldolase deficiency (TALDO; OMIM 606003) was first described in 2001, and is a rare inborn autosomal recessive error of the pentose phosphate pathway; the initial reported patient had liver dysfunction from birth, subsequently developing liver cirrhosis at the age of 2 years (Verhoeven et al 2001). Twenty-nine TALDO patients have previously been diagnosed in the neonatal or early infantile period (Verhoeven et al 2001(Verhoeven et al , 2005Loeffen et al 2012;Valayonnopoulos et al 2006;Wamelink et al 2007Wamelink et al , 2008Tylki-Szymanska et al 2009Eyaid et al 2013;LeDuc et al 2013;Jassim et al 2014;Al-Shamsi et al 2015;Banne et al 2016;Rodan and Berry 2017).…”

Discriminating high-risk cervical Human Papilloma Virus infections with urinary biomarkers via non-targeted GC-MS-based metabolomics

“…However, its elevation in urine evidences a deficiency of the activity of Transaldolase—a key enzyme in the pentose phosphate pathway [54]. This can lead to various clinical manifestations including liver dysfunction hepatosplenomegaly, hepatic fibrosis in the pathophysiology of diabetes [55, 56].…”