3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants
In any child presenting with hypoketotic hypoglycemia and metabolic acidosis of unknown etiology, HMGCLD should be considered. Given the rarity of HMGCLD and its sporadic cases across Europe, management should involve a well-experienced multidisciplinary team.
Authors
- Milena Bjelica (ORCID: https://orcid.org/0000-0003-1702-0270)
- Falko Wünsche
- Katarina Koprivšek (ORCID: https://orcid.org/0000-0003-4575-0051)
- Marija Knežević Pogančev (ORCID: https://orcid.org/0000-0002-3375-5069)
- Sarah C. Grünert (ORCID: https://orcid.org/0000-0001-5986-0468)
- Jörn Oliver Sass (ORCID: https://orcid.org/0000-0003-2903-4872)
- Aleksandra Stojadinović (ORCID: https://orcid.org/0000-0003-0851-325X)
- Raina Yamamoto
Institutions
- Hochschule Bonn-Rhein-Sieg (DE)
- University of Freiburg (DE)
- University of Novi Sad (RS)
- University Medical Center Freiburg (DE)
- Institute of Public Health of Vojvodina (RS)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-06-13
- DOI
- https://doi.org/10.1515/jpem-2025-0156
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00