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Triosephosphate isomerase deficiency is a rare autosomal recessive [2] metabolic disorder which was initially described in 1965. [3]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. [4]
Triose phosphate isomerase deficiency is characterized by chronic hemolytic anemia. While there are various mutations that cause this disease, most include the replacement of glutamic acid at position 104 with an aspartic acid.
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. [5] The deficiency is most commonly caused by mutations in TPI1, although mutations in other isoforms have been ...
The disease referred to as triosephosphate isomerase deficiency (TPI), is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism. [18] It is characterized by hemolytic anemia and neurodegeneration, and is caused by anaerobic metabolic dysfunction.
A deficiency of GPI is responsible for 4% of the hemolytic anemias due to glycolytic enzyme deficiencies. [12] [13] [25] [26] Several cases of GPI deficiency have recently been identified. [27] Elevated serum GPI levels have been used as a prognostic biomarker for colorectal, breast, lung, kidney, gastrointestinal, and other cancers.
Trihydroxycholestanoylcoa oxidase isolated deficiency; Trimethadione antenatal infection; Trimethylaminuria; Triopia; Triosephosphate isomerase deficiency; Triphalangeal thumb non opposable; Triphalangeal thumb polysyndactyly syndrome; Triphalangeal thumbs brachyectrodactyly; Triple A syndrome; Triplo X Syndrome; Triploid Syndrome; Triploidy
(B) fructose-1,6-bisphosphate aldolase, splitting the C6-molecule into two triose phosphates (C) triosephosphate isomerase, interconverting DHAP and GAP. (D) glycerol pathway reducing DHAP to glycerol-3-phosphate (G3P) by G3P dehydrogenase, followed by dephosphorylation to glycerol by G3Pase. (E) The lower part of glycolysis converts GAP to ...
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...