Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
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 acids before and after a load with 3-phenylpropionate. From 1986 until now 29 patients with MCADD were detected in Freiburg by selective screening for inherited metabolic disorders; 27 of them were confirmed by challenging with 3-phenylpropionic acid. The remaining two patients were not available for further investigations. The 3-phenylpropionate loading test is recommended in patients suffering from recurrent attacks of hypoketotic hypoglycemia and in families, where sudden infant death syndrome (SIDS) or near miss SIDS has occurred.
Lehnert
W
W
University Children's Hospital, Freiburg, Federal Republic of Germany.
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000517:prevention & control; D010666:Phenylpropionates; D013398:Sudden Infant Death
D010666:Phenylpropionates; C035253:3-phenylpropionic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase