Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Abstract

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.

• Authors: W Lehnert
• Journal: Padiatrie und Padologie (Padiatr Padol) Vol. 28 Issue 1 Pg. 9-12 ( 1993) ISSN: 0030-9338 [Print] Austria
• PMID: 8446429 (Publication Type: Journal Article)

Chemical References

• Phenylpropionates
• 3-phenylpropionic acid
• Acyl-CoA Dehydrogenases
• Acyl-CoA Dehydrogenase

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenases (deficiency)
• Humans
• Hypoglycemia (etiology)
• Infant
• Mass Screening
• Metabolism, Inborn Errors (diagnosis, prevention & control)
• Phenylpropionates
• Sudden Infant Death