The diagnosis of mitochondrial HMG-CoA synthase deficiency
- Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes. (J Pediatr 2002;140:778-80)
| Author: | Johannes Zschocke, Johannes M. Penzien, Rainer Bielen, Núria Casals, Rosa Aledo, Juan Pié, Georg F. Hoffmann, Fausto G. Hegardt, Ertan Mayatepek |
|---|---|
| Frontdoor URL | https://opus.bibliothek.uni-augsburg.de/opus4/112289 |
| ISSN: | 0022-3476OPAC |
| Parent Title (English): | The Journal of Pediatrics |
| Publisher: | Elsevier BV |
| Place of publication: | Amsterdam |
| Type: | Article |
| Language: | English |
| Year of first Publication: | 2002 |
| Release Date: | 2024/04/08 |
| Tag: | Pediatrics, Perinatology and Child Health |
| Volume: | 140 |
| Issue: | 6 |
| First Page: | 778 |
| Last Page: | 780 |
| DOI: | https://doi.org/10.1067/mpd.2002.123854 |
| Institutes: | Medizinische Fakultät |
| Medizinische Fakultät / Universitätsklinikum | |
| Medizinische Fakultät / Lehrstuhl für Kinder- und Jugendmedizin | |
| Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
