Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency

Aissa, Khaoula; Kamoun, Fatma; Sfaihi, Lamia; Ghedira, Elyes Slim; Aloulou, Hajer; Kamoun, Thouraya; Pissard, Serge; Hachicha, M.

doi:10.3109/15513815.2014.915365

Cited by 13 publications

(9 citation statements)

References 18 publications

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“…In particular, a few patients showed neurological symptoms similar to those in the present patient, such as hemiplegic migraines (20,27,28), although the details of the clinical manifestations appear to be different. Dysfunction of some glycolytic enzymes other than PGK impairs not only for RBC but also for the CNS (29,30). The CNS may not tolerate minor glycolysis dysfunction better than the RBC, because the CNS requires substantial energy compared to RBC.…”

Section: Discussionmentioning

confidence: 99%

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

Matsumaru

Oguni

Ogura

et al. 2017

IRDR

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Section: Discussionmentioning

confidence: 99%

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

Matsumaru

Oguni

Ogura

et al. 2017

IRDR

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“…The mutant E104D produces the most common form of human TIM deficiency. A case hemolytic anemia due to TIM deficiency E105D ( 103 ) has been recently reported . The crystal structure of wild type HsTIM was modeled in an attempt to explain the molecular basis of the TIM deficiencies with the E104D ( 103 ), G122R ( 121 ) and F240I (239 ) mutations .…”

Section: Effect Of Specific Residues At Selected Positionsmentioning

confidence: 99%

A guide to the effects of a large portion of the residues of triosephosphate isomerase on catalysis, stability, druggability, and human disease

et al. 2017

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Triosephosphate isomerase (TIM) is a ubiquitous enzyme, which appeared early in evolution. TIM is responsible for obtaining net ATP from glycolysis and producing an extra pyruvate molecule for each glucose molecule, under aerobic and anaerobic conditions. It is placed in a metabolic crossroad that allows a quick balance of the triose phosphate aldolase produced by glycolysis, and is also linked to lipid metabolism through the alternation of glycerol-3-phosphate and the pentose cycle. TIM is one of the most studied enzymes with more than 199 structures deposited in the PDB. The interest for this enzyme stems from the fact that it is involved in glycolysis, but also in aging, human diseases and metabolism. TIM has been a target in the search for chemical compounds against infectious diseases and is a model to study catalytic features. Until February 2017, 62% of all residues of the protein have been studied by mutagenesis and/or using other approaches. Here, we present a detailed and comprehensive recompilation of the reported effects on TIM catalysis, stability, druggability and human disease produced by each of the amino acids studied, contributing to a better understanding of the properties of this fundamental protein. The information reviewed here shows that the role of the noncatalytic residues depend on their molecular context, the delicate balance between the short and long-range interactions in concerted action determining the properties of the protein. Each protein should be regarded as a unique entity that has evolved to be functional in the organism to which it belongs. Proteins 2017; 85:1190-1211. © 2017 Wiley Periodicals, Inc.

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“…The neurologic development of our patients was normal during the first 8 months and then ceased to improve, especially during infection periods, and loss of acquired functions was subsequently observed. Aissa et al [ 2014 ] reported a girl with TPI deficiency who had distal weakness, respiratory failure, and chronic haemolytic anaemia, which was always triggered by recurrent bronchiolitis.…”

Section: Discussionmentioning

confidence: 99%

Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature

Selamioğlu¹,

Karaca²,

Balcı³

et al. 2023

Mol Syndromol

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Introduction: Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the clinical findings of triosephosphate isomerase (TPI) deficiency, which is an ultra-rare disorder. The clinical and laboratory findings and the outcomes of 2 patients with TPI deficiency are reported, with a review of cases reported in the literature. Case Presentation: Two unrelated patients with haemolytic anaemia and neurologic findings who were diagnosed as having TPI deficiency are presented. Neonatal onset of initial symptoms was observed in both patients, and the age at diagnosis was around 2 years. The patients had increased susceptibility to infections and respiratory failure, but cardiac symptoms were not remarkable. Screening for inborn errors of metabolism revealed a previously unreported metabolic alteration determined using tandem mass spectrometry in acylcarnitine analysis, causing elevated propionyl carnitine levels in both patients. The patients had p.E105D (c.315G>C) homozygous mutations in the TPI1 gene. Although severely disabled, both patients are alive at the ages of 7 and 9 years. Discussion: For better management, it is important to investigate the genetic aetiology in patients with haemolytic anaemia with or without neurologic symptoms who do not have a definitive diagnosis. The differential diagnosis of elevated propionyl carnitine levels using tandem mass spectrometry screening should also include TPI deficiency.

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Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency

Cited by 13 publications

References 18 publications

A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

A guide to the effects of a large portion of the residues of triosephosphate isomerase on catalysis, stability, druggability, and human disease

Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature

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