| Title: |
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death |
| Authors: |
Bennett, M J; Pollitt, R J; Taitz, L S; Variend, S |
| Source: |
Clinical Chemistry ; volume 36, issue 9, page 1695-1697 ; ISSN 0009-9147 1530-8561 |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
1990 |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1093/clinchem/36.9.1695 |
| Availability: |
https://doi.org/10.1093/clinchem/36.9.1695; http://academic.oup.com/clinchem/article-pdf/36/9/1695/32744329/clinchem1695.pdf |
| Rights: |
https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model |
| Accession Number: |
edsbas.D0987565 |
| Database: |
BASE |