Abstract
Isovaleric acidaemia (IVA) is an organic acidemia caused by deficient metabolism of the essential amino acid leucine. We describe the biochemistry, diagnostics, and treatment of IVA, and present the known Danish patients.
| Bidragets oversatte titel | [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine] |
|---|---|
| Originalsprog | Dansk |
| Tidsskrift | Ugeskrift for Laeger |
| Vol/bind | 173 |
| Udgave nummer | 15 |
| Sider (fra-til) | 1121-3 |
| Antal sider | 3 |
| ISSN | 0041-5782 |
| Status | Udgivet - 2011 |