Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome
This case highlights that PGM1-CDG can mimic clinical and laboratory findings of GHI. CDG diagnosis should be considered in cases with clinical and laboratory findings of GHI accompanied by multisystem disorders such as hepatopathy, elevated CK, and cardiomyopathy. This patient's successful response to rhIGF-1 therapy highlights the potential benefits of targeted therapies in treating growth hormone-related disorders in patients.
Authors
- Eda Mengen (ORCID: https://orcid.org/0000-0003-1597-8418)
- Seyit Ahmet Uçaktürk (ORCID: https://orcid.org/0000-0001-8666-4454)
- Ahmet Cevdet Ceylan (ORCID: https://orcid.org/0000-0003-4938-3420)
- Emre Özer (ORCID: https://orcid.org/0000-0001-8475-9070)
Institutions
- Ministry of Health (TR)
- Ankara University (TR)
- University of Health Science (KH)
- Sağlık Bilimleri Üniversitesi (TR)
- Cukurova University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1515/jpem-2025-0447
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 0.00