Author: EH Kolodny
Support information on page: Developmental Disorders > Metabolic & Genetic Disorders > Diagnostic testing
Blood
- Complete blood cell count, electrolytes, calcium, magnesium
- Glucose
- Ammonia, uric acid
- Biotinidase
- Liver function tests, ammonia
- Lactic acid, pyruvic acid
- Acylcarnitines, amino acids
Urine
- Organic acids, mucopolysaccharides
- Sialic acid, oligosaccharides
- Purines and pyrimidines
Cerebrospinal fluid
- Glucose, protein, cells
- Catecholamines
Neurophysiology
- Electroencephalography (EEG)
- Evoked potentials
- Electromyography
- Sensory and motor nerve conduction
Neuroradiology
Tissue biopsies
Adapted from: Kolodny, EH. Metabolic and genetic disorders. In: Devinsky O and Westbrook LE, eds. Epilepsy and Developmental Disabilities. Boston: Butterworth-Heinemann; 2001;17-22.
With permission from Elsevier (www.elsevier.com).
Reviewed May 2004 by Steven C. Schachter, MD, epilepsy.com Editorial Board.
