DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfall
-related MTDPS. This case highlights that hyperlactatemia may be absent or only mild in the early stages of MTDPS, making timely diagnosis challenging. Mitochondrial functional analysis and genetic testing should be considered early in infants with unexplained cholestasis and liver failure, regardless of the lactate levels.
Authors
- Daisuke Terazawa
- Tomohiro Kanayama (ORCID: https://orcid.org/0000-0001-8845-6827)
- Tatsuhiko Miyazaki (ORCID: https://orcid.org/0000-0002-4750-2046)
- Moe Li
- Yuya Kuwabara
- Atsushi Ishida
- Kei Murayama
- Akira Hara
- Hideki Matsumoto
- Hideo Sasai
- Hiroaki Taniguchi
Institutions
- Nagoya City University (JP)
- Juntendo University (JP)
- Gifu Prefectural Tajimi Hospital (JP)
- Gifu University Hospital (JP)
- Chiba Hospital (JP)
- Gifu University (JP)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-05-01
- DOI
- https://doi.org/10.1016/j.ymgmr.2026.101314
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare