Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
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MCADD is an autosomal recessively transmitted inborn error of C6-C12-carboxylic acid metabolism, causing episodically attacks of life threatening hypoketotic hypoglycemia or Reye-syndrome-like disease. Diagnosis is made best by investigating urinary organic ac... ...
