Triosephosphate isomerase deficiency
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| Triosephosphate isomerase deficiency Classification and external resources | |
| ICD-10 | D55.2 |
|---|---|
| ICD-9 | 282.3 |
| OMIM | 190450 |
| DiseasesDB | 30116 |
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Triosephosphate isomerase deficiency is a rare, autosomal recessive disorder which was initially described in 1965.[1]
It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood.[2] The disease is exceptionally rare with less than 100 patients diagnosed worldwide.
Pathophysiology
Thirteen different mutations in the respective gene, which is located at chromosome 12p13 and encodes the ubiquitous housekeeping enzyme triosephosphate isomerase (TPI), have been discovered so far.[2] TPI is a crucial enzyme of glycolysis and catalyzes the interconversion of dihydroxyacetone phosphate and glyceraldehyde-3-phosphate. A marked decrease in TPI activity and an accumulation of dihydroxyacetone phosphate have been detected in erythrocyte extracts of homozygous (two identical mutant alleles) and compound heterozygous (two different mutant alleles) TPI deficiency patients. Heterozygous individuals are clinically unaffected, even if their residual TPI activity is reduced. Recent work suggests that not a direct inactivation, but an alteration in TPI dimerization might underlie the pathology.[3] This might explain why the disease is rare, but inactive TPI alleles have been detected at higher frequency implicating a heterozygote advantage of inactive TPI alleles.
References
- ↑ Schneider, Arthur S.; William N. Valentine, Hattori M, H. L. Heins Jr (1965). "Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency". New England Journal of Medicine 272: 229-235. PMID 14242501.
- ↑ 2.0 2.1 Schneider, Arthur S. (March 2000). "Triosephosphate isomerase deficiency: historical perspectives and molecular aspects" 13 (1): 119-140. doi:10.1053/beha.2000.0061. PMID 10916682. Retrieved on 2006-12-22.
- ↑ Ralser, Markus; Gino Heeren, Michael Breitenbach, Hans Lehrach, Sylvia Krobitsch (December 20, 2006). "Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes". PLoS ONE 1 (1): e30. doi:10.1371/journal.pone.0000030. Retrieved on 2006-12-22.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
