Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report

Xue, Jiaxin; Han, Jin Hee; Zhao, Xiao Li; Li, Zhen; Mei, Shanshan; Hu, Zongxiang; Li, Xiuzhen

doi:10.3389/fgene.2021.752272

Cited by 5 publications

(2 citation statements)

References 18 publications

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“…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.…”

Section: Erythritol Exposure Due To Inborn Errors Of Pentose Phosphat...mentioning

confidence: 99%

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

Mazi,

Stanhope

2023

Nutrients

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Erythritol is a non-nutritive sugar replacement that can be endogenously produced by humans. Witkowski et al. reported that elevated circulating erythritol is associated with adverse cardiovascular events in three independent cohorts, demonstrated in vitro and ex vivo that erythritol promotes platelet activation, and showed faster clotting time in mice injected with erythritol. It was concluded that erythritol fosters enhanced thrombosis. This narrative review presents additional evidence that needs to be considered when evaluating these data and conclusions. We conducted a search of all studies related to erythritol exposure with focus on those that reported vascular health outcomes. Patients with chronically elevated erythritol levels due to inborn errors of metabolism do not exhibit higher platelet activation or thrombosis risk. Most long-term studies in which animals consumed high levels of erythritol do not support its role in platelet activation and thrombosis formation. Clinical data on the effects of chronic intake of erythritol are limited. Erythritol may be merely a marker of dysregulation in the Pentose Phosphate Pathway caused by impaired glycemia. However, this suggestion and the findings of Witkowski et al. need to be further examined. Clinical trials examining the long-term effects of erythritol consumption on cardiometabolic outcomes are required to test the causality between dietary erythritol and cardiometabolic risk. Until supportive data from these trials are available, it cannot be concluded that dietary erythritol promotes platelet activation, thrombosis, and cardiometabolic risk.

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Section: Erythritol Exposure Due To Inborn Errors Of Pentose Phosphat...mentioning

confidence: 99%

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

Mazi,

Stanhope

2023

Nutrients

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“…However, the initial case of TD was described in 2001, by Verhoeven et al, and concerned a 10-year-old girl of consanguineous Turkish parents, who presented with liver cirrhosis of unknown origin in early childhood [ 3 ]. Since then, few other cases of TD have been reported in the literature [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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

Fallata¹,

Alamri²,

Alrabee³

et al. 2023

Cureus

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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.

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Identification of myosin genes and their expression in response to biotic (PVY, PVX, PVS, and PVA) and abiotic (Drought, Heat, Cold, and High-light) stress conditions in potato

Hajibarat

Saïdi²,

Gorji³

et al. 2022

Mol Biol Rep

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Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report

Cited by 5 publications

References 18 publications

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

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

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

Identification of myosin genes and their expression in response to biotic (PVY, PVX, PVS, and PVA) and abiotic (Drought, Heat, Cold, and High-light) stress conditions in potato

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