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Disease Profile

Triosephosphate isomerase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

D55.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

TPI deficiency; Triose phosphate-isomerase deficiency

Categories

Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders;

Summary

Triosephosphate isomerase (TPI) deficiency is a severe disorder characterized by a shortage of red blood cells (hemolytic anemia), neurological problems, infections, and muscle weakness that can affect breathing and heart function.[1][2] TPI deficiency is the most severe form of a group of diseases known as glycolytic enzymopathies, which are rare genetic diseases that lead to the degeneration of the red blood cells.[3] Signs and symptoms include anemia, fatigue, pallor, yellowing of the skin and the white of the eyes (jaundice), and shortness of breath. Other symptoms are muscle weakness and wasting (atrophy), movement problems (such as involuntary muscle contractions (dystonia), tremors and weak muscle tone), seizures, cardiomyopathy, and diaphragm weakness which may cause breathing problems and lead to respiratory failure.[1] The disease is caused by mutations in the TPI1 gene. Inheritance is autosomal recessive. Treatment is directed toward the specific symptoms that are present in each person.[4]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of immune system physiology
0010978
Central nervous system degeneration
0007009
Muscular hypotonia
Low or weak muscle tone
0001252
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
30%-79% of people have these symptoms
Diaphragmatic paralysis
Paralyzed diaphragm
0006597
5%-29% of people have these symptoms
Decreased nerve conduction velocity
0000762
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639

Treatment

Treatment is directed toward the specific symptoms that are apparent in each person. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, cardiologists, neurologists, and other healthcare professionals may need to systematically and comprehensively create a plan for each child's treatment.[4]

Specific therapies may include blood transfusions to treat hemolytic anemia during episodes of red blood cell destruction (hemolysis) and assisted ventilation to treat paralysis of the diaphragm. Genetic counseling may be of benefit for affected people and their families. Other treatment is symptomatic and supportive.[2]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Triosephosphate isomerase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Triosephosphate isomerase deficiency. Genetics Home Reference. 2014; https://ghr.nlm.nih.gov/condition/triosephosphate-isomerase-deficiency.
  2. Triose phosphate-isomerase deficiency. Orphanet. 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868.
  3. Roland BP & cols. Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics. PLoS Genet. March 31, 2016; 12(3):1005941. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816394/.
  4. Triosephosphate Isomerase Deficiency. NORD. 2015; https://rarediseases.org/rare-diseases/triosephosphate-isomerase-deficiency.

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