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Transketolase , Blood

Description

Transketolase, an enzyme that occurs twice in the pentose shunt, is a thiamine dependant enzyme. The functions of the pentose shunt pathway are to provide pentose phosphate for nucleotide synthesis and to supply reduced NADP for various synthetic pathways. Activity of this enzyme has been used for many years as the best functional test for evidence of thiamine deficiency. Transketolase deficiency may inhibit the generation of NADPH via the pentose phosphate cycle and this in turn could decrease the synthesis of lipids for cerebral myelination.

Indications

Transketolase deficiency is associated with the neurodegenerative disease Wernicke-Korsakoff syndrome. In Alzheimer’s disease patients, transketolase protein variants with different isoelectric points or smaller truncated transketolase protein isoforms have been identified. In addition, abnormal transketolase activity has been reported in some autistic children.

Sample Type, Quantity & Conditions

3 ml Heparin Blood Room Temperature

Special Precautions

Normal Range

42 - 69 U/L

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