Triosephosphate Isomerase Deficiency (TPID)

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Disease Ontology 12 DOID:0050884 OMIM 56 615512 MeSH 43 D000745 D008661 ICD10 via Orphanet 33 D55.2 UMLS via Orphanet 72 C0398562 C1860808

Orphanet 58 ORPHA868 MedGen 41 C1860808 SNOMED-CT via HPO 68 129565002 16294009 18165001 221360009 224958001 22631008 233873004 258211005 26079004 266474003 300980002 302200001 302226006 386033004 394616008 397790002 398151007 398152000 405946002 414564002 42343007 42658009 45227007 64228003 707480001 74035001 76581006 84114007 more UMLS 71 C0398562 C1860808

Genetics Home Reference : ²⁵ Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. Since the anemia results from the premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. A shortage of red blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. When the red cells are broken down, iron and a molecule called bilirubin are released; individuals with triosephosphate isomerase deficiency have an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice, which is a yellowing of the skin and the whites of the eyes. Movement problems typically become apparent by age 2 in people with triosephosphate isomerase deficiency. The movement problems are caused by impairment of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may also develop seizures. Weakness of other muscles, such as the heart (a condition known as cardiomyopathy) and the muscle that separates the abdomen from the chest cavity (the diaphragm) can also occur in triosephosphate isomerase deficiency. Diaphragm weakness can cause breathing problems and ultimately leads to respiratory failure. Individuals with triosephosphate isomerase deficiency are at increased risk of developing infections because they have poorly functioning white blood cells. These immune system cells normally recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The most common infections in people with triosephosphate isomerase deficiency are bacterial infections of the respiratory tract. People with triosephosphate isomerase deficiency often do not survive past childhood due to respiratory failure. In a few rare cases, affected individuals without severe nerve damage or muscle weakness have lived into adulthood.

MalaCards based summary : Triosephosphate Isomerase Deficiency, also known as triose phosphate-isomerase deficiency, is related to hemolytic anemia and anemia, x-linked, with or without neutropenia and/or platelet abnormalities, and has symptoms including tremor, icterus and muscle spasticity. An important gene associated with Triosephosphate Isomerase Deficiency is TPI1 (Triosephosphate Isomerase 1), and among its related pathways/superpathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Pyruvate metabolism. Affiliated tissues include heart, eye and skin, and related phenotypes are muscular hypotonia and skeletal muscle atrophy

Disease Ontology : ¹² A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has material basis in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.

NIH Rare Diseases : ⁵² 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. 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 . 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. 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.

OMIM : ⁵⁶ Triosephosphate isomerase deficiency is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010). (615512)

UniProtKB/Swiss-Prot : ⁷³ Triosephosphate isomerase deficiency: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.

Wikipedia : ⁷⁴ Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was... more...

Clinical features from OMIM:

615512

Search Clinical Trials , NIH Clinical Center for Triosephosphate Isomerase Deficiency

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