Triose phosphate isomerase deficiency
Definition
Triose phosphate isomerase (TPI) deficiency is a rare non-sex-linked (autosomal) disorder that is a result of an insufficient amount of the enzyme triose phosphate isomerase. This disorder is inherited as a dominant trait and it is known to be caused by more than one different mutation in the same gene (allelic variants).
Description
Triose phosphate isomerase is an enzyme involved in the breakdown of glucose into the energy required to sustain cellular metabolism. Glucose is first converted into the chemical pyruvate. Pyruvate then enters the tricarboxylic acid cycle (TCA cycle) to produce ATP, the chemical form of energy used by the cells. Glucose is broken down to the chemical pyruvate via a chemical...
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