Comments | |
Initial evaluation* | |
Blood tests | |
CBC with differential | |
Blood glucose | |
Electrolytes, BUN, creatinine, uric acid | |
Arterial blood gas | |
Plasma ammonia | Should be obtained from artery or vein without a tourniquet. The tube should be placed on ice for transport to the laboratory and analyzed immediately. If the plasma ammonia concentration is >100 micromol/L (1.7 mcg/mL), the measurement should be repeated immediately. |
AST, ALT, bilirubin, PT | If the patient has signs of liver disease. |
LDH, aldolase, creatine kinase | |
Urine tests | |
Color, odor | |
Urinalysis | |
Reducing substances | |
Myoglobin | If the patient has signs or symptoms of myopathy. |
Specialized tests | |
Blood tests | |
Quantitative plasma amino acids | Plasma amino acid analysis must be performed quantitatively rather than qualitatively. |
Lactate and pyruvate | Lactate and pyruvate should be measured in arterial blood and transported on ice. |
Acylcarnitine profile | Analysis of acylcarnitine conjugates is performed by tandem mass spectrometry and can be measured in a plasma sample or a filter-paper bloodspot. Serum is preferred because of inherent problems in quantitating compounds from a filter-paper blood spot |
Urine tests | |
Qualitative urine organic acids | Minimum of 2 to 5 mL in sterile container without preservative. |
Additional tests in selected patients | |
Creatine/guanidinoacetate | |
Purine pyrimidine panel | |
Very-long-chain fatty acid profile | |
Alpha aminoadipic semialdehyde |
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