Abstract |
The sensitivity and specificity of a modified forearm ischemic test (FIT) are described in the diagnosis of glycogen storage disease, myoadenylate deaminase deficiency, and mitochondrial disease. FIT and muscle biopsy results were reviewed from 99 patients ( glycogen storage disease [GSD], myoadenylate deaminase deficiency [AMPD], mitochondrial disease [MITO], miscellaneous neuromuscular disorders, and controls). The influence of catheter placement and an antecedent sugar bolus were also assessed in healthy young men. The FIT had a sensitivity of 1.00 and a specificity of 1.00 for a diagnosis of GSD, whereas the corresponding values were 1.00 and 0.37 for AMPD deficiency. A baseline lactate of >2.5 mmol/L provided the highest sensitivity (0.62) and specificity (1.00) for MITO disease. A baseline and +1 min sample provided optimal sensitivity and specificity for GSD and AMPD deficiency. Catheter placement in any vein other than the ipsilateral antecubital resulted in attenuated lactate responses (P < 0.0001). A pre-FIT sugar bolus did not alter the postexercise lactate or ammonia response. Thus, a modified FIT was helpful in the diagnosis of GSD and excluding AMPD deficiency, but not in the diagnosis of MITO disease. Catheter placement is critical to the interpretation of a FIT, whereas pretesting diet is less important.
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Authors | Mark Tarnopolsky, Leslie Stevens, Jay R MacDonald, Christine Rodriguez, Douglas Mahoney, Jim Rush, John Maguire |
Journal | Muscle & nerve
(Muscle Nerve)
Vol. 27
Issue 3
Pg. 359-66
(Mar 2003)
ISSN: 0148-639X [Print] United States |
PMID | 12635123
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adult
- Ammonia
(blood)
- Catheterization, Peripheral
- Eating
- Exercise Test
- Forearm
(blood supply)
- Glycogen Storage Disease
(diagnosis, physiopathology)
- Humans
- Ischemia
(diagnosis, physiopathology)
- Lactic Acid
(blood)
- Male
- Mitochondrial Diseases
(diagnosis, physiopathology)
- Neuromuscular Diseases
(diagnosis, physiopathology)
- Sensitivity and Specificity
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