Pediatric Movement Disorders - Diagnostic Methods

Metabolic Tests

When a specific metabolic disease is suspected, additional tests may be performed. In addition to screening measurements of ammonia, lactate, amino acids (as measured in blood and urine, and sometimes CSF), and organic acids (measured in urine), it may be necessary to obtain more specialized metabolic tests including measurements of carnitine and acylcarnitines, fatty acids, as well as white blood cell enzyme function.