Authors
Muhammad Wajid Siddique, Muhammad Hanzla Shahzad, Mifrah Rahat Khan, Fnu Mahparah, Kanchan Kumari, Muhammad Husnain Ahmad
Published in
Clinical case reports. Volume 14. Issue 8. Pages e73281. Epub Aug 02, 2026.
Abstract
A 7.5-year-old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1. Her survival without liver failure remains atypical for Pakistan.
PMID:
42548915
Bibliographic data and abstract were imported from PubMed on 04 Aug 2026.
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