Acylcarnitine profil: this condition typically presents with hypoketotic hypoglycemia i.e low blood sugar with no evidence of ketone formation in the blood. initial tests should include glucose, ketone levels, acyl carnitine profile and urine organic acids/serum amino acids. If highly suspected, then the specialist to see will be a metabolic geneticist. There is a genetic test available for MCAD
Answered 2/3/2015
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A doctor has provided 1 answer
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