Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome

Abstract

Eyaid's syndrome or Transaldolase Deficiency (TD) (OMIM 606003) is a rare autosomal recessive inborn error of metabolism. In this report, we describe the case of an eight-year-old Saudi girl with a history of hepatosplenomegaly since infancy, who presented to the emergency department for a short history of cough and worsening cyanosis. She had growth retardation, facial dysmorphia, cardiac defect, neutropenia, and thrombocytopenia, besides hepatosplenomegaly. A thorough investigation led to the diagnosis of hepatopulmonary syndrome and whole exome sequencing showed a homozygous frameshift variant in the TALDO1 gene, c.793del, p.Gln265fs. Thus, the patient was diagnosed with TD complicated with hepatopulmonary syndrome, and the indication of liver transplantation was discussed.

Elevated Erythritol: A Marker of Metabolic Dysregulation or Contributor to the Pathogenesis of Cardiometabolic Disease?

“…In transaldolase deficiency, congenital coagulopathies (blood clotting disorders) are commonly reported. However, rather than upregulated platelet activation and hypercoagulation, patients display thrombocytopenia with abnormalities including prolonged prothrombin, thrombin, and activated partial thromboplastin times [ 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 31 , 32 , 33 , 34 , 35 ]. In other words, these patients display bleeding tendencies rather than tendencies toward clot formation.…”