Related Experiment Video
Updated: Jun 24, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Transaldolase deficiency in two new patients with a relative mild phenotype
Anna Tylki-Szymańska1, Teresa J Stradomska, Mirjam M C Wamelink
1Clinic of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. atylki@op.pl, a.tylki@czd.pl
Abstract:
Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the pentose phosphate pathway that so far has been diagnosed in only eight patients. In this article, we report the clinical course and biochemical findings of two newly identified patients with TALDO deficiency-two sons of consanguineous parents from Polish origin, presenting with neonatal onset of bleeding diathesis, haemolytic anemia, thrombocytopenia and hepatosplenomegaly. Subsequently the patients had persistent thrombocytopenia, a bleeding tendency, impaired liver function and fibrosis. Their physical and psychomotor development progressed normally.
Related Concept Videos
Incomplete Dominance
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Multiple Allele Traits
Inborn Errors of Metabolism
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

