Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

Lipiński, Patryk; Pawłowska, Joanna; Stradomska, Teresa Joanna; Ciara, Elżbieta; Jankowska, Irena; Socha, Piotr; Tylki‐Szymańska, Anna

doi:10.1007/8904_2017_83

Cited by 10 publications

(13 citation statements)

References 17 publications

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“…The clinical significance of normalized serum AFP in a patient treated with NAC is uncertain, although it may reflect decreased hepatocyte injury and reduced hepatocarcinogenesis, as suggested in the mouse disease model . A decrease of AFP was also observed in most TALDO‐D patients without NAC treatment . Further treatment experiences are needed to determine the role of these therapies in TALDO‐D.…”

Section: Discussionmentioning

confidence: 99%

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Williams

Valayannopoulos

Altassan

et al. 2019

J of Inher Metab Disea

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Background: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. Methods: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients. Results and conclusions: Most patients (n = 22) had an early-onset presentation (prenatally or before 1 month of age); 12 patients had a late-onset presentation (3 months to 9 years). Main presenting symptoms were intrauterine growth restriction, dysmorphic facial features, congenital heart disease, anemia, thrombocytopenia, and hepato(spleno)megaly. An older sib of two affected patients was asymptomatic until the age of 9 years, and only after molecular diagnosis was hepatomegaly noted. In some patients, there was gonadal dysfunction with low levels of testosterone and secondary luteinizing hormone (LH) and folliclestimulating hormone (FSH) abnormalities later in life. This overview provides information that can be helpful for managing patients and counseling families regarding prognosis. Diagnostic guidelines, possible genotype-phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.

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Section: Discussionmentioning

confidence: 99%

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Williams

Valayannopoulos

Altassan

et al. 2019

J of Inher Metab Disea

View full text Add to dashboard Cite

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“…TALDO1-deficient patients present various clinical problems, including coagulopathy, thrombocytopenia, hepatosplenomegaly, anemia, hepatic fibrosis, and liver and renal tubular dysfunction ( Loeffen et al, 2012 ; Banne et al, 2016 ). Progressive coagulopathy is a sensitive parameter indicating liver dysfunction in patients with TALDO deficiency ( Lipiński et al, 2018 ).…”

Section: Resultsmentioning

confidence: 99%

Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism

et al. 2020

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COVID-19 is caused by Severe Acute Respiratory Syndrome Coronavirus-2, which has infected over thirty eight million individuals worldwide. Emerging evidence indicates that COVID-19 patients are at a high risk of developing coagulopathy and thrombosis, conditions that elevate levels of D-dimer. It is believed that homocysteine, an amino acid that plays a crucial role in coagulation, may also contribute to these conditions. At present, multiple genes are implicated in the development of these disorders. For example, single-nucleotide polymorphisms (SNPs) in FGG, FGA, and F5 mediate increases in D-dimer and SNPs in ABO, CBS, CPS1 and MTHFR mediate differences in homocysteine levels, and SNPs in TDAG8 associate with Heparin-induced Thrombocytopenia. In this study, we aimed to uncover the genetic basis of the above conditions by examining genome-wide associations and tissue-specific gene expression to build a molecular network. Based on gene ontology, we annotated various SNPs with five ancestral terms: pulmonary embolism, venous thromboembolism, vascular diseases, cerebrovascular disorders, and stroke. The gene-gene interaction network revealed three clusters that each contained hallmark genes for D-dimer/fibrinogen levels, homocysteine levels, and arterial/venous thromboembolism with F2 and F5 acting as connecting nodes. We propose that genotyping COVID-19 patients for SNPs examined in this study will help identify those at greatest risk of complications linked to thrombosis.

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“…To date, has been diagnosed in 41 patients worldwide. The largest number of these patient where interestingly Saudis (12 patients) [4][5][6][7][8]. Two main presentations of TALDO has been recognized so far: an early onset presentation (prenatal or neonatal disease) which is the severe form, in most of the cases rapidly fatal, and a late onset presentation (early or late infantile form) with slowly progressive and milder form of the disease.…”

Section: Discussionmentioning

confidence: 99%