Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms

@article{Holln1993HereditaryTI,
  title={Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms},
  author={Susan R. Holl{\'a}n and Hodaka Fujii and Akira Hirono and K Hirono and Hele Karro and Shiro Miwa and V Hars{\'a}nyi and {\'E}va Gy{\'o}di and M Inselt-Kov{\'a}cs},
  journal={Human Genetics},
  year={1993},
  volume={92},
  pages={486-490}
}
A 13-year-old Hungarian boy (B.J. Jr.) with congenital haemolytic anaemia (CHA) and hyperkinetic torsion dyskinesia was found to have severe triose-phosphate isomerase (TPI) deficiency. One of his two brothers (A.J.), a 23-year-old amateur wrestler, has CHA as well, but no neurological symptoms. Both have less than 10% TPI activity and a highly increased dihydroxyacetone phosphate (DHAP) level in their red blood cells. Their TPI had a slow electrophoretic mobility and was heat unstable. Both… 

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.

A two-month-old male infant presented with jaundice, pallor, and hepatomegaly and Triose-phosphate isomerase (TPI) deficiency, which is a rare autosomal recessive multisystem disorder of glycolysis, was detected and homozygous missense mutation in the TPI1 gene was detected.

Reappraisal of triosephosphate isomerase deficiency

The features connected with hemolytic anemia as well as the biochemical data do not show unambiguous or significant differences between the Hungarian brothers and the recent Italian case, although the Italian girl’s anemia became more chronic in time, requiring regular blood transfusion.

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The first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl is reported, and molecular study of TPI genes showed that the father and the mother are heterozygous for Glu105Asp mutation.

Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.

The modelling rendered it possible to establish the steady-state flux of the glycolysis and metabolite concentrations, which was not possible experimentally due to the inactivation of the mutant TPI and other enzymes during the pre-steady state.

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of

Triosephosphate isomerase deficiency: new insights into an enigmatic disease.

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency

A mouse model is generated in which exchange of a conserved catalytic amino acid residue reduces TPI specific activity without affecting the stability of the protein dimer, and a strong decline in TPI catalytic activity is not sufficient to explain the pathological onset of TPI deficiency.

Triosephosphate isomerase de ® ciency : historical perspectives and molecular aspects

The possible contribution of deviant lipid metabolism to the pathogenesis of the disorder has been extensively investigated, and an intriguing new area of inquiry is the apparent cell-to-cell transfer of enzyme in cell culture systems, raising the question of the feasibility of enzyme or gene replacement therapy.

Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes

It is discovered that yeast cells expressing a TPI variant exhibiting reduced catalytic activity are more resistant against oxidative stress caused by the thiol-oxidizing reagent diamide, which might serve to explain the high allelic frequency of TPI null alleles detected among human populations.

References

SHOWING 1-10 OF 53 REFERENCES

Hereditary triose phosphate isomerase deficiency: seven new homozygous cases

SummarySeven new homozygous cases of hereditary triosephosphate isomerase (TPI) deficiency have been detected in five unrelated families. Two of the families originate in France, the others from

Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease. Familial and biochemical studies of a case found in Spain

It is suggested that molecular instability might cause both enzymatic and antigenic degradation of the TPI molecule and, therefore, TPI deficiency in the patient.

Triosephosphate isomerase deficiency: Haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity

The findings indicate that the low TPI activity leads to a metabolic block of the glycolytic pathway and hence to a generalized impairment of cellular energy supply.

Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency

SummaryMorphological changes are shown in the muscle biopsy specimens of an 8-year-old girl who suffered from a triosephosphate isomerase (TPI) deficiency, resulting in a chronic, nonspherocytic,

Hereditary deficiency of triosephosphate isomerase in four unrelated families

Three unrelated families discovered in three unrelated families by a heterozygote screening of 3000 blood samples had triosephosphate isomerase deficiencies, and two of the eleven heterozygotes, both children, were diseased, but it seems unlikely that the disorders resulted from the deficiencies.

Elevated Frequency of Carriers for Triosephosphate Isomerase Deficiency in Newborn Infants

Seven newborns with erythrocyte triosephosphate isomerase (TPI) activity levels consistent with the existence of a “null” allele in heterozygous form were identified among 146 Black infants studied, which implies one of every 2000 Black newborns should be homozygous deficient.

Triosephosphate isomerase deficiency: 2 new cases.

The immunological characterization revealed a lower than normal inactivation by specific antiserum, while the double immunodiffusion pattern and the precipitin curve were normal, and lymphocyte, granulocyte and platelet functions were impaired.

The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes.

An inherited and complete deficiency of diphosphoglycerate mutase was discovered in the erythrocytes of a 42-yr-old man of French origin whose blood hemoglobin concentration was 19.0 g/dl and the affinity of the cells for oxygen was increased.

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.

The x-ray crystal structure of chicken TPI indicates that the loss of a side-chain methylene group is sufficient to disrupt the counterbalancing of charges that normally exists within a hydrophobic pocket of the native enzyme.
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