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.
| Translated title of the contribution | [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine] |
|---|---|
| Original language | Danish |
| Journal | Ugeskrift for Laeger |
| Volume | 173 |
| Issue number | 15 |
| Pages (from-to) | 1121-3 |
| Number of pages | 3 |
| ISSN | 0041-5782 |
| Publication status | Published - 2011 |