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Interpretive Handbook

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Test 84162:
Neurologic Enzyme Evaluation

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Several RBC enzymes are known to cause a nonspherocytic hemolytic anemia (HA). The most common cause of these are glucose-6-phosphate dehydrogenase and pyruvate kinase deficiency. Four other RBC enzymes that cause HA have also been associated with hereditary myopathic or neurologic disorders. These enzymes are phosphofructokinase, triosephosphate isomerase, phosphoglycerate kinase, and glutathione synthase. Kinetic enzyme assays are available for the first 3 disorders. Quantitative measurement of glutathione substitutes for analysis of the enzyme glutathione synthase.

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluating patients who have a hemolytic process that is associated with some neurologic findings

Interpretation Provides information to assist in interpretation of the test results

Definitive results and an interpretive report will be provided.

 

Significant abnormal values typically are 25% of values obtained for a normal individual.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

No significant cautionary statements

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Definitive results and an interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Fairbanks VF, Klee GG: Biochemical aspects of hematology. In Tietz Textbook of Clinical Chemistry. Third edition. Edited by CA Burtis, ER Ashwood. Philadelphia, WB Saunders Company, 1999, pp 1642-1644

2. Boulard MR, Meienhofer MC, Bois M, et al: Letter: red-cell phosphofructokinase deficiency. N Engl J Med 1974;291:978-979

3. Schneider AS, Valentine WN, Hattori M, Heins HL: Hereditary hemolytic anemia with triosephosphate isomerase deficiency. N Engl J Med 1965;272:229-235