Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death.

Abstract

We report a family in whom a fatal case of medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.3) deficiency was diagnosed by enzymatic analysis of heart tissue that had been stored for five years. Three healthy siblings underwent subsequent investigation with the 3-phenylpropionic acid loading test. All siblings had been asymptomatic; however, one (age 2.5 years) excreted large amounts of 3-phenylpropionylglycine in response to the load and exhibited an organic aciduria consistent with the diagnosis of MCAD deficiency. The other two siblings did not demonstrate 3-phenylpropionylglycinuria after the loading test. This case underlines the importance of considering family history and using appropriate diagnostic tests in the recognition of hereditary metabolic disorders.

• Authors: M J Bennett, R J Pollitt, L S Taitz, S Variend
• Journal: Clinical chemistry (Clin Chem) Vol. 36 Issue 9 Pg. 1695-7 (Sep 1990) ISSN: 0009-9147 [Print] England
• PMID: 2208722 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenases (deficiency)
• Family
• Family Health
• Female
• Glycine (analogs & derivatives, urine)
• Humans
• Infant
• Lipid Metabolism, Inborn Errors (diagnosis, enzymology, genetics)
• Myocardium (enzymology)
• Phenylpropionates