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Laboratory evaluation for suspected inborn errors of metabolism

Laboratory evaluation for suspected inborn errors of metabolism
  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  
CBC: complete blood count; BUN: blood urea nitrogen; AST: aspartate aminotransferase; ALT: alanine aminotransferase; PT: prothrombin time; LDH: lactate dehydrogenase.
* If possible, blood and urine samples should be obtained for both the initial and specialized tests at the time of presentation. Samples for specialized tests should be processed and stored appropriately for further testing if indicated.
Graphic 67745 Version 10.0